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CMT Subtypes

Original
Discovery Publications
Reference Database

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the Related Subtype Discoveries

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ex: PMP22, SORD, CMTDIG, dHMN-2C, 1999


Gene Names/Symbols and Subtypes Should Be
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CMT Subtypes

Original
Discovery Publications
Reference Database

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Researchers found and published the first genetic cause for Charcot-Marie-Tooth Disease (CMT) in 1991. At the time, they thought there might be mutations in three or four genes linked to the disease, and maybe five tops. Now, more than thirty years later, researchers have discovered CMT-causing mutations in 140 genes, and four additional chromosomal locations suspected of having a gene with a CMT-causing mutation, but scientists have not yet discovered the exact gene. All of these combine to cause a staggering 174 individual CMT subtypes.

 

When a researcher discovers a CMT genetic cause, they publish their findings in a research paper. The researcher or team of researchers who author the paper have the honor of naming their discovery. This name becomes the name of the related CMT subtype, as in CMT2GG, or CMT-SORD, or dHMN-7B, for example. These discoveries though are not reported to or recorded with any organization, agency, or entity, as there aren’t any who are responsible for cataloging these discoveries.

 

With no entity or organization responsible for, or who are actively engaged in, tracking and cataloging these discoveries for public access, finding the originating publications is quite a daunting task for even the most seasoned researcher. The goal of this searchable database is to fill this void for the researcher, for the practicing clinician, and for the everyday patient by providing a quick reference for each publication that establishes a CMT subtype, and by providing a link to the original publication. This database does not provide the published papers but only a reference with a link to the published paper.

What's the Criteria for Inclusion?

 

The criteria for inclusion in this database is each paper has to either specifically propose a subtype name, or has to specifically conclude the finding to cause CMT (using any of the many acronyms that CMT as a disease name includes, as concluded by (Bansagi, et al., 2017)  (Bird,1998, Updated 2022)  (Raymond, 2021), or has to be a cited reference to support a CMT subtype name in any of the following authoritative resources: Charcot-Marie-Tooth Association, Inherited Neuropathies Consortium, Online Mendelian Inheritance in Man – OMIM, or Genesis Project Foundation.

Titles of Published Papers Don’t Always Match Content

 

The title of a research paper that establishes a CMT subtype can sometimes read one way, but the conclusions drawn by the paper’s authors depict something else. For this reason, the title displayed in this database might be confusing. Papers that are an original establishing publication might not propose a subtype name, but the name has emerged after publication. CMT1A, for example, of which the first genetic cause—a duplication of a segment of chromosome 17, was discovered and published by (Raeymaekers, et al., 1991),  but then further refined to the specific gene with the CMT1A-causing mutation, the PMP22 gene (Patel, et al., 1992).  Because Patel et. al (1992) identified the specific gene, this paper is credited with the 1A-associated gene discovery. Raeymaeker et al. (1991), however, was first to identify a cause for CMT1A, and was the first to publish any genetic cause for CMT and gets the rightful credit for the first CMT genetic discovery.

Retracted Gene Associations

 

Researchers first discovered the elusive cause for CMT2A in 2001, by identifying a mutation in the KIF1B gene (Zhao, et al., 2001).  However, in 2004, researchers discovered the true culprit was a mutation in the MFN2 gene (Züchner, et al., 2004).  The KIF1B gene association to CMT is included in this database, but its association to CMT was retracted officially in 2020 (Clinical Genome Resource 2020),  and the gene is not counted in the overall CMT-associated genes total referenced above and that is found in the Experts in CMT’s CMT-Associated Genes and Related Subtypes database.

 

Researchers discovered CMT-causing mutations in the MED25 gene in 2009. They named this discovery CMT2B2 (Leal, et al., 2009).  In 2018, the same lead author concluded this association was incorrect when they published the true culprit was a mutation in the PNKP gene (Leal, et al., 2018).     Like the KIF1B gene, the MED25 gene is included in this database, but its association to CMT was retracted by Leal et al. (2018), and the gene is not counted in the overall CMT-associated genes total.

Database Limitations

 

Every attempt has been made to ensure accuracy and to ensure full inclusion of all discovered and named CMT subtypes. However, CMT genetic discoveries move quickly. There might be discovery publications not yet included in this database. This database does not provide subtype counts or gene counts. Instead, the results returned represent the number of published papers that match your search criteria.

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Click the button below to open the search tools. To close the search tools and come back here, click the Return to Start button.

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References

​​

  1. Bansagi, B., Griffin, H., Whittaker, R. G., Antoniadi, T., Evangelista, T., Miller, J., Greenslade, M., Forester, N., Duff, J., Bradshaw, A., Kleinle, S., Boczonadi, V., Steele, H., Ramesh, V., Franko, E., Pyle, A., Lochmüller, H., Chinnery, P. F., & Horv. 2017. "Genetic heterogeneity of motor neuropathies." Neurology 88 (13): 1226–1234. doi: https://doi.org/10.1212/WNL.0000000000003772

  2. Bird, T. D. 1998 September 28 (Updated 2021 May 20). Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. Edited by Ardinger HH, Pagon RA, et al. Adam MP. Seattle, Washington: GeneReviews® [Internet]. Accessed 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1358/

  3. Raymond, Kenneth. 2021. CMT-Associated Genes and Their Related Subtypes: The Definitive Guide. 1st. Detroit: Kenneth Raymond. Accessed November 2021. https://www.cmtausa.org/understanding-cmt/cmt-associated-genes-the-definitive-guide/

  4. Raeymaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendijk, J. E., Baas, F., Barker, D. F., Martin, J. J., De Visser, M., & Bolhuis, P. A. 1991. "Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group." Neuromuscular disorders : NMD, 1 (2): 93–97. doi: https://doi.org/10.1016/0960-8966(91)90055-w

  5. Patel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B. J., Pentao, L., Snipes, G. J., Garcia, C. A., Francke, U., Shooter, E. M., Lupski, J. R., & Suter, U. 1992. "The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A." Nature genetics 1 (3): 59–165. doi: https://doi.org/10.1038/ng0692-159

  6. Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H. W., Terada, S., Nakata, T., Takei, Y., Saito, M., Tsuji, S., Hayashi, Y., & Hirokawa, N. 2001. "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta." Cell 105 (5): 587–597. doi: https://doi.org/10.1016/s0092-8674(01)00363-4

  7. Züchner, S., Mersiyanova, I.V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., Jonghe, P. D., Takahashi, Y., Tsuji, S., Pericak-Vance, M. A., Quattrone... 2004. "Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A." Nature genetics 36 (5): 449–451. doi: https://doi.org/10.1038/ng1341

  8. Clinical Genome Resource. 2020. Clinical Genome Resource. October. Accessed August 2021. https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae6ffeae-9609-47bf-89a9-4863cf6ef05c-2020-10-05T161930.420Z

  9. Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., Morera, B., Del Valle, G., Lupski, J. R., Ekici, A., Pasutto, F., Endele, S., Barrantes, R., Berghoff, C., Berghoff, M., Neundörfer, B., Heuss, D., Dorn, T., Young, P., et al. 2009. "Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models." Neurogenetics 10 (4): 375–376. doi: https://doi.org/10.1007/s10048-009-0213-1

  10. Leal, A., Bogantes-Ledezma, S., Ekici, A. B., Uebe, S., Thiel, C. T., Sticht, H., Berghoff, M., Berghoff, C., Morera, B., Meisterernst, M., & Reis, A. 2018. "The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25." Neurogenetics 19 (4): 215–225. doi: https://doi.org/10.1007/s10048-018-0555-7

​​

  1. Bansagi, B., Griffin, H., Whittaker, R. G., Antoniadi, T., Evangelista, T., Miller, J., Greenslade, M., Forester, N., Duff, J., Bradshaw, A., Kleinle, S., Boczonadi, V., Steele, H., Ramesh, V., Franko, E., Pyle, A., Lochmüller, H., Chinnery, P. F., & Horv. 2017. "Genetic heterogeneity of motor neuropathies." Neurology 88 (13): 1226–1234. doi: https://doi.org/10.1212/WNL.0000000000003772

  2. Bird, T. D. 1998 September 28 (Updated 2021 May 20). Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. Edited by Ardinger HH, Pagon RA, et al. Adam MP. Seattle, Washington: GeneReviews® [Internet]. Accessed 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1358/

  3. Raymond, Kenneth. 2021. CMT-Associated Genes and Their Related Subtypes: The Definitive Guide. 1st. Detroit: Kenneth Raymond. Accessed November 2021. https://www.cmtausa.org/understanding-cmt/cmt-associated-genes-the-definitive-guide/

  4. Raeymaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendijk, J. E., Baas, F., Barker, D. F., Martin, J. J., De Visser, M., & Bolhuis, P. A. 1991. "Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group." Neuromuscular disorders : NMD, 1 (2): 93–97. doi: https://doi.org/10.1016/0960-8966(91)90055-w

  5. Patel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B. J., Pentao, L., Snipes, G. J., Garcia, C. A., Francke, U., Shooter, E. M., Lupski, J. R., & Suter, U. 1992. "The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A." Nature genetics 1 (3): 59–165. doi: https://doi.org/10.1038/ng0692-159

  6. Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H. W., Terada, S., Nakata, T., Takei, Y., Saito, M., Tsuji, S., Hayashi, Y., & Hirokawa, N. 2001. "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta." Cell 105 (5): 587–597. doi: https://doi.org/10.1016/s0092-8674(01)00363-4

  7. Züchner, S., Mersiyanova, I.V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., Jonghe, P. D., Takahashi, Y., Tsuji, S., Pericak-Vance, M. A., Quattrone... 2004. "Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A." Nature genetics 36 (5): 449–451. doi: https://doi.org/10.1038/ng1341

  8. Clinical Genome Resource. 2020. Clinical Genome Resource. October. Accessed August 2021. https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae6ffeae-9609-47bf-89a9-4863cf6ef05c-2020-10-05T161930.420Z

  9. Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., Morera, B., Del Valle, G., Lupski, J. R., Ekici, A., Pasutto, F., Endele, S., Barrantes, R., Berghoff, C., Berghoff, M., Neundörfer, B., Heuss, D., Dorn, T., Young, P., et al. 2009. "Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models." Neurogenetics 10 (4): 375–376. doi: https://doi.org/10.1007/s10048-009-0213-1

  10. Leal, A., Bogantes-Ledezma, S., Ekici, A. B., Uebe, S., Thiel, C. T., Sticht, H., Berghoff, M., Berghoff, C., Morera, B., Meisterernst, M., & Reis, A. 2018. "The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25." Neurogenetics 19 (4): 215–225. doi: https://doi.org/10.1007/s10048-018-0555-7

​​

  1. Bansagi, B., Griffin, H., Whittaker, R. G., Antoniadi, T., Evangelista, T., Miller, J., Greenslade, M., Forester, N., Duff, J., Bradshaw, A., Kleinle, S., Boczonadi, V., Steele, H., Ramesh, V., Franko, E., Pyle, A., Lochmüller, H., Chinnery, P. F., & Horv. 2017. "Genetic heterogeneity of motor neuropathies." Neurology 88 (13): 1226–1234. doi: https://doi.org/10.1212/WNL.0000000000003772

  2. Bird, T. D. 1998 September 28 (Updated 2021 May 20). Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. Edited by Ardinger HH, Pagon RA, et al. Adam MP. Seattle, Washington: GeneReviews® [Internet]. Accessed 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1358/

  3. Raymond, Kenneth. 2021. CMT-Associated Genes and Their Related Subtypes: The Definitive Guide. 1st. Detroit: Kenneth Raymond. Accessed November 2021. https://www.cmtausa.org/understanding-cmt/cmt-associated-genes-the-definitive-guide/

  4. Raeymaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendijk, J. E., Baas, F., Barker, D. F., Martin, J. J., De Visser, M., & Bolhuis, P. A. 1991. "Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group." Neuromuscular disorders : NMD, 1 (2): 93–97. doi: https://doi.org/10.1016/0960-8966(91)90055-w

  5. Patel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B. J., Pentao, L., Snipes, G. J., Garcia, C. A., Francke, U., Shooter, E. M., Lupski, J. R., & Suter, U. 1992. "The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A." Nature genetics 1 (3): 59–165. doi: https://doi.org/10.1038/ng0692-159

  6. Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H. W., Terada, S., Nakata, T., Takei, Y., Saito, M., Tsuji, S., Hayashi, Y., & Hirokawa, N. 2001. "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta." Cell 105 (5): 587–597. doi: https://doi.org/10.1016/s0092-8674(01)00363-4

  7. Züchner, S., Mersiyanova, I.V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., Jonghe, P. D., Takahashi, Y., Tsuji, S., Pericak-Vance, M. A., Quattrone... 2004. "Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A." Nature genetics 36 (5): 449–451. doi: https://doi.org/10.1038/ng1341

  8. Clinical Genome Resource. 2020. Clinical Genome Resource. October. Accessed August 2021. https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae6ffeae-9609-47bf-89a9-4863cf6ef05c-2020-10-05T161930.420Z

  9. Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., Morera, B., Del Valle, G., Lupski, J. R., Ekici, A., Pasutto, F., Endele, S., Barrantes, R., Berghoff, C., Berghoff, M., Neundörfer, B., Heuss, D., Dorn, T., Young, P., et al. 2009. "Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models." Neurogenetics 10 (4): 375–376. doi: https://doi.org/10.1007/s10048-009-0213-1

  10. Leal, A., Bogantes-Ledezma, S., Ekici, A. B., Uebe, S., Thiel, C. T., Sticht, H., Berghoff, M., Berghoff, C., Morera, B., Meisterernst, M., & Reis, A. 2018. "The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25." Neurogenetics 19 (4): 215–225. doi: https://doi.org/10.1007/s10048-018-0555-7

​​

  1. Bansagi, B., Griffin, H., Whittaker, R. G., Antoniadi, T., Evangelista, T., Miller, J., Greenslade, M., Forester, N., Duff, J., Bradshaw, A., Kleinle, S., Boczonadi, V., Steele, H., Ramesh, V., Franko, E., Pyle, A., Lochmüller, H., Chinnery, P. F., & Horv. 2017. "Genetic heterogeneity of motor neuropathies." Neurology 88 (13): 1226–1234. doi: https://doi.org/10.1212/WNL.0000000000003772

  2. Bird, T. D. 1998 September 28 (Updated 2021 May 20). Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. Edited by Ardinger HH, Pagon RA, et al. Adam MP. Seattle, Washington: GeneReviews® [Internet]. Accessed 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1358/

  3. Raymond, Kenneth. 2021. CMT-Associated Genes and Their Related Subtypes: The Definitive Guide. 1st. Detroit: Kenneth Raymond. Accessed November 2021. https://www.cmtausa.org/understanding-cmt/cmt-associated-genes-the-definitive-guide/

  4. Raeymaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendijk, J. E., Baas, F., Barker, D. F., Martin, J. J., De Visser, M., & Bolhuis, P. A. 1991. "Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group." Neuromuscular disorders : NMD, 1 (2): 93–97. doi: https://doi.org/10.1016/0960-8966(91)90055-w

  5. Patel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B. J., Pentao, L., Snipes, G. J., Garcia, C. A., Francke, U., Shooter, E. M., Lupski, J. R., & Suter, U. 1992. "The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A." Nature genetics 1 (3): 59–165. doi: https://doi.org/10.1038/ng0692-159

  6. Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H. W., Terada, S., Nakata, T., Takei, Y., Saito, M., Tsuji, S., Hayashi, Y., & Hirokawa, N. 2001. "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta." Cell 105 (5): 587–597. doi: https://doi.org/10.1016/s0092-8674(01)00363-4

  7. Züchner, S., Mersiyanova, I.V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., Jonghe, P. D., Takahashi, Y., Tsuji, S., Pericak-Vance, M. A., Quattrone... 2004. "Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A." Nature genetics 36 (5): 449–451. doi: https://doi.org/10.1038/ng1341

  8. Clinical Genome Resource. 2020. Clinical Genome Resource. October. Accessed August 2021. https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae6ffeae-9609-47bf-89a9-4863cf6ef05c-2020-10-05T161930.420Z

  9. Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., Morera, B., Del Valle, G., Lupski, J. R., Ekici, A., Pasutto, F., Endele, S., Barrantes, R., Berghoff, C., Berghoff, M., Neundörfer, B., Heuss, D., Dorn, T., Young, P., et al. 2009. "Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models." Neurogenetics 10 (4): 375–376. doi: https://doi.org/10.1007/s10048-009-0213-1

  10. Leal, A., Bogantes-Ledezma, S., Ekici, A. B., Uebe, S., Thiel, C. T., Sticht, H., Berghoff, M., Berghoff, C., Morera, B., Meisterernst, M., & Reis, A. 2018. "The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25." Neurogenetics 19 (4): 215–225. doi: https://doi.org/10.1007/s10048-018-0555-7

​​

  1. Bansagi, B., Griffin, H., Whittaker, R. G., Antoniadi, T., Evangelista, T., Miller, J., Greenslade, M., Forester, N., Duff, J., Bradshaw, A., Kleinle, S., Boczonadi, V., Steele, H., Ramesh, V., Franko, E., Pyle, A., Lochmüller, H., Chinnery, P. F., & Horv. 2017. "Genetic heterogeneity of motor neuropathies." Neurology 88 (13): 1226–1234. doi: https://doi.org/10.1212/WNL.0000000000003772

  2. Bird, T. D. 1998 September 28 (Updated 2021 May 20). Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. Edited by Ardinger HH, Pagon RA, et al. Adam MP. Seattle, Washington: GeneReviews® [Internet]. Accessed 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1358/

  3. Raymond, Kenneth. 2021. CMT-Associated Genes and Their Related Subtypes: The Definitive Guide. 1st. Detroit: Kenneth Raymond. Accessed November 2021. https://www.cmtausa.org/understanding-cmt/cmt-associated-genes-the-definitive-guide/

  4. Raeymaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendijk, J. E., Baas, F., Barker, D. F., Martin, J. J., De Visser, M., & Bolhuis, P. A. 1991. "Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group." Neuromuscular disorders : NMD, 1 (2): 93–97. doi: https://doi.org/10.1016/0960-8966(91)90055-w

  5. Patel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B. J., Pentao, L., Snipes, G. J., Garcia, C. A., Francke, U., Shooter, E. M., Lupski, J. R., & Suter, U. 1992. "The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A." Nature genetics 1 (3): 59–165. doi: https://doi.org/10.1038/ng0692-159

  6. Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H. W., Terada, S., Nakata, T., Takei, Y., Saito, M., Tsuji, S., Hayashi, Y., & Hirokawa, N. 2001. "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta." Cell 105 (5): 587–597. doi: https://doi.org/10.1016/s0092-8674(01)00363-4

  7. Züchner, S., Mersiyanova, I.V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., Jonghe, P. D., Takahashi, Y., Tsuji, S., Pericak-Vance, M. A., Quattrone... 2004. "Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A." Nature genetics 36 (5): 449–451. doi: https://doi.org/10.1038/ng1341

  8. Clinical Genome Resource. 2020. Clinical Genome Resource. October. Accessed August 2021. https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae6ffeae-9609-47bf-89a9-4863cf6ef05c-2020-10-05T161930.420Z

  9. Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., Morera, B., Del Valle, G., Lupski, J. R., Ekici, A., Pasutto, F., Endele, S., Barrantes, R., Berghoff, C., Berghoff, M., Neundörfer, B., Heuss, D., Dorn, T., Young, P., et al. 2009. "Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models." Neurogenetics 10 (4): 375–376. doi: https://doi.org/10.1007/s10048-009-0213-1

  10. Leal, A., Bogantes-Ledezma, S., Ekici, A. B., Uebe, S., Thiel, C. T., Sticht, H., Berghoff, M., Berghoff, C., Morera, B., Meisterernst, M., & Reis, A. 2018. "The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25." Neurogenetics 19 (4): 215–225. doi: https://doi.org/10.1007/s10048-018-0555-7

​​

  1. Bansagi, B., Griffin, H., Whittaker, R. G., Antoniadi, T., Evangelista, T., Miller, J., Greenslade, M., Forester, N., Duff, J., Bradshaw, A., Kleinle, S., Boczonadi, V., Steele, H., Ramesh, V., Franko, E., Pyle, A., Lochmüller, H., Chinnery, P. F., & Horv. 2017. "Genetic heterogeneity of motor neuropathies." Neurology 88 (13): 1226–1234. doi: https://doi.org/10.1212/WNL.0000000000003772

  2. Bird, T. D. 1998 September 28 (Updated 2021 May 20). Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. Edited by Ardinger HH, Pagon RA, et al. Adam MP. Seattle, Washington: GeneReviews® [Internet]. Accessed 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1358/

  3. Raymond, Kenneth. 2021. CMT-Associated Genes and Their Related Subtypes: The Definitive Guide. 1st. Detroit: Kenneth Raymond. Accessed November 2021. https://www.cmtausa.org/understanding-cmt/cmt-associated-genes-the-definitive-guide/

  4. Raeymaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendijk, J. E., Baas, F., Barker, D. F., Martin, J. J., De Visser, M., & Bolhuis, P. A. 1991. "Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group." Neuromuscular disorders : NMD, 1 (2): 93–97. doi: https://doi.org/10.1016/0960-8966(91)90055-w

  5. Patel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B. J., Pentao, L., Snipes, G. J., Garcia, C. A., Francke, U., Shooter, E. M., Lupski, J. R., & Suter, U. 1992. "The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A." Nature genetics 1 (3): 59–165. doi: https://doi.org/10.1038/ng0692-159

  6. Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H. W., Terada, S., Nakata, T., Takei, Y., Saito, M., Tsuji, S., Hayashi, Y., & Hirokawa, N. 2001. "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta." Cell 105 (5): 587–597. doi: https://doi.org/10.1016/s0092-8674(01)00363-4

  7. Züchner, S., Mersiyanova, I.V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., Jonghe, P. D., Takahashi, Y., Tsuji, S., Pericak-Vance, M. A., Quattrone... 2004. "Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A." Nature genetics 36 (5): 449–451. doi: https://doi.org/10.1038/ng1341

  8. Clinical Genome Resource. 2020. Clinical Genome Resource. October. Accessed August 2021. https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae6ffeae-9609-47bf-89a9-4863cf6ef05c-2020-10-05T161930.420Z

  9. Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., Morera, B., Del Valle, G., Lupski, J. R., Ekici, A., Pasutto, F., Endele, S., Barrantes, R., Berghoff, C., Berghoff, M., Neundörfer, B., Heuss, D., Dorn, T., Young, P., et al. 2009. "Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models." Neurogenetics 10 (4): 375–376. doi: https://doi.org/10.1007/s10048-009-0213-1

  10. Leal, A., Bogantes-Ledezma, S., Ekici, A. B., Uebe, S., Thiel, C. T., Sticht, H., Berghoff, M., Berghoff, C., Morera, B., Meisterernst, M., & Reis, A. 2018. "The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25." Neurogenetics 19 (4): 215–225. doi: https://doi.org/10.1007/s10048-018-0555-7

​​

  1. Bansagi, B., Griffin, H., Whittaker, R. G., Antoniadi, T., Evangelista, T., Miller, J., Greenslade, M., Forester, N., Duff, J., Bradshaw, A., Kleinle, S., Boczonadi, V., Steele, H., Ramesh, V., Franko, E., Pyle, A., Lochmüller, H., Chinnery, P. F., & Horv. 2017. "Genetic heterogeneity of motor neuropathies." Neurology 88 (13): 1226–1234. doi: https://doi.org/10.1212/WNL.0000000000003772

  2. Bird, T. D. 1998 September 28 (Updated 2021 May 20). Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. Edited by Ardinger HH, Pagon RA, et al. Adam MP. Seattle, Washington: GeneReviews® [Internet]. Accessed 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1358/

  3. Raymond, Kenneth. 2021. CMT-Associated Genes and Their Related Subtypes: The Definitive Guide. 1st. Detroit: Kenneth Raymond. Accessed November 2021. https://www.cmtausa.org/understanding-cmt/cmt-associated-genes-the-definitive-guide/

  4. Raeymaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendijk, J. E., Baas, F., Barker, D. F., Martin, J. J., De Visser, M., & Bolhuis, P. A. 1991. "Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group." Neuromuscular disorders : NMD, 1 (2): 93–97. doi: https://doi.org/10.1016/0960-8966(91)90055-w

  5. Patel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B. J., Pentao, L., Snipes, G. J., Garcia, C. A., Francke, U., Shooter, E. M., Lupski, J. R., & Suter, U. 1992. "The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A." Nature genetics 1 (3): 59–165. doi: https://doi.org/10.1038/ng0692-159

  6. Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H. W., Terada, S., Nakata, T., Takei, Y., Saito, M., Tsuji, S., Hayashi, Y., & Hirokawa, N. 2001. "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta." Cell 105 (5): 587–597. doi: https://doi.org/10.1016/s0092-8674(01)00363-4

  7. Züchner, S., Mersiyanova, I.V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., Jonghe, P. D., Takahashi, Y., Tsuji, S., Pericak-Vance, M. A., Quattrone... 2004. "Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A." Nature genetics 36 (5): 449–451. doi: https://doi.org/10.1038/ng1341

  8. Clinical Genome Resource. 2020. Clinical Genome Resource. October. Accessed August 2021. https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae6ffeae-9609-47bf-89a9-4863cf6ef05c-2020-10-05T161930.420Z

  9. Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., Morera, B., Del Valle, G., Lupski, J. R., Ekici, A., Pasutto, F., Endele, S., Barrantes, R., Berghoff, C., Berghoff, M., Neundörfer, B., Heuss, D., Dorn, T., Young, P., et al. 2009. "Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models." Neurogenetics 10 (4): 375–376. doi: https://doi.org/10.1007/s10048-009-0213-1

  10. Leal, A., Bogantes-Ledezma, S., Ekici, A. B., Uebe, S., Thiel, C. T., Sticht, H., Berghoff, M., Berghoff, C., Morera, B., Meisterernst, M., & Reis, A. 2018. "The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25." Neurogenetics 19 (4): 215–225. doi: https://doi.org/10.1007/s10048-018-0555-7

​​

  1. Bansagi, B., Griffin, H., Whittaker, R. G., Antoniadi, T., Evangelista, T., Miller, J., Greenslade, M., Forester, N., Duff, J., Bradshaw, A., Kleinle, S., Boczonadi, V., Steele, H., Ramesh, V., Franko, E., Pyle, A., Lochmüller, H., Chinnery, P. F., & Horv. 2017. "Genetic heterogeneity of motor neuropathies." Neurology 88 (13): 1226–1234. doi: https://doi.org/10.1212/WNL.0000000000003772

  2. Bird, T. D. 1998 September 28 (Updated 2021 May 20). Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. Edited by Ardinger HH, Pagon RA, et al. Adam MP. Seattle, Washington: GeneReviews® [Internet]. Accessed 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1358/

  3. Raymond, Kenneth. 2021. CMT-Associated Genes and Their Related Subtypes: The Definitive Guide. 1st. Detroit: Kenneth Raymond. Accessed November 2021. https://www.cmtausa.org/understanding-cmt/cmt-associated-genes-the-definitive-guide/

  4. Raeymaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendijk, J. E., Baas, F., Barker, D. F., Martin, J. J., De Visser, M., & Bolhuis, P. A. 1991. "Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group." Neuromuscular disorders : NMD, 1 (2): 93–97. doi: https://doi.org/10.1016/0960-8966(91)90055-w

  5. Patel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B. J., Pentao, L., Snipes, G. J., Garcia, C. A., Francke, U., Shooter, E. M., Lupski, J. R., & Suter, U. 1992. "The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A." Nature genetics 1 (3): 59–165. doi: https://doi.org/10.1038/ng0692-159

  6. Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H. W., Terada, S., Nakata, T., Takei, Y., Saito, M., Tsuji, S., Hayashi, Y., & Hirokawa, N. 2001. "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta." Cell 105 (5): 587–597. doi: https://doi.org/10.1016/s0092-8674(01)00363-4

  7. Züchner, S., Mersiyanova, I.V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., Jonghe, P. D., Takahashi, Y., Tsuji, S., Pericak-Vance, M. A., Quattrone... 2004. "Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A." Nature genetics 36 (5): 449–451. doi: https://doi.org/10.1038/ng1341

  8. Clinical Genome Resource. 2020. Clinical Genome Resource. October. Accessed August 2021. https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae6ffeae-9609-47bf-89a9-4863cf6ef05c-2020-10-05T161930.420Z

  9. Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., Morera, B., Del Valle, G., Lupski, J. R., Ekici, A., Pasutto, F., Endele, S., Barrantes, R., Berghoff, C., Berghoff, M., Neundörfer, B., Heuss, D., Dorn, T., Young, P., et al. 2009. "Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models." Neurogenetics 10 (4): 375–376. doi: https://doi.org/10.1007/s10048-009-0213-1

  10. Leal, A., Bogantes-Ledezma, S., Ekici, A. B., Uebe, S., Thiel, C. T., Sticht, H., Berghoff, M., Berghoff, C., Morera, B., Meisterernst, M., & Reis, A. 2018. "The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25." Neurogenetics 19 (4): 215–225. doi: https://doi.org/10.1007/s10048-018-0555-7

​​

  1. Bansagi, B., Griffin, H., Whittaker, R. G., Antoniadi, T., Evangelista, T., Miller, J., Greenslade, M., Forester, N., Duff, J., Bradshaw, A., Kleinle, S., Boczonadi, V., Steele, H., Ramesh, V., Franko, E., Pyle, A., Lochmüller, H., Chinnery, P. F., & Horv. 2017. "Genetic heterogeneity of motor neuropathies." Neurology 88 (13): 1226–1234. doi: https://doi.org/10.1212/WNL.0000000000003772

  2. Bird, T. D. 1998 September 28 (Updated 2021 May 20). Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. Edited by Ardinger HH, Pagon RA, et al. Adam MP. Seattle, Washington: GeneReviews® [Internet]. Accessed 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1358/

  3. Raymond, Kenneth. 2021. CMT-Associated Genes and Their Related Subtypes: The Definitive Guide. 1st. Detroit: Kenneth Raymond. Accessed November 2021. https://www.cmtausa.org/understanding-cmt/cmt-associated-genes-the-definitive-guide/

  4. Raeymaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendijk, J. E., Baas, F., Barker, D. F., Martin, J. J., De Visser, M., & Bolhuis, P. A. 1991. "Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group." Neuromuscular disorders : NMD, 1 (2): 93–97. doi: https://doi.org/10.1016/0960-8966(91)90055-w

  5. Patel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B. J., Pentao, L., Snipes, G. J., Garcia, C. A., Francke, U., Shooter, E. M., Lupski, J. R., & Suter, U. 1992. "The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A." Nature genetics 1 (3): 59–165. doi: https://doi.org/10.1038/ng0692-159

  6. Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H. W., Terada, S., Nakata, T., Takei, Y., Saito, M., Tsuji, S., Hayashi, Y., & Hirokawa, N. 2001. "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta." Cell 105 (5): 587–597. doi: https://doi.org/10.1016/s0092-8674(01)00363-4

  7. Züchner, S., Mersiyanova, I.V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., Jonghe, P. D., Takahashi, Y., Tsuji, S., Pericak-Vance, M. A., Quattrone... 2004. "Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A." Nature genetics 36 (5): 449–451. doi: https://doi.org/10.1038/ng1341

  8. Clinical Genome Resource. 2020. Clinical Genome Resource. October. Accessed August 2021. https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae6ffeae-9609-47bf-89a9-4863cf6ef05c-2020-10-05T161930.420Z

  9. Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., Morera, B., Del Valle, G., Lupski, J. R., Ekici, A., Pasutto, F., Endele, S., Barrantes, R., Berghoff, C., Berghoff, M., Neundörfer, B., Heuss, D., Dorn, T., Young, P., et al. 2009. "Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models." Neurogenetics 10 (4): 375–376. doi: https://doi.org/10.1007/s10048-009-0213-1

  10. Leal, A., Bogantes-Ledezma, S., Ekici, A. B., Uebe, S., Thiel, C. T., Sticht, H., Berghoff, M., Berghoff, C., Morera, B., Meisterernst, M., & Reis, A. 2018. "The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25." Neurogenetics 19 (4): 215–225. doi: https://doi.org/10.1007/s10048-018-0555-7

​​

  1. Bansagi, B., Griffin, H., Whittaker, R. G., Antoniadi, T., Evangelista, T., Miller, J., Greenslade, M., Forester, N., Duff, J., Bradshaw, A., Kleinle, S., Boczonadi, V., Steele, H., Ramesh, V., Franko, E., Pyle, A., Lochmüller, H., Chinnery, P. F., & Horv. 2017. "Genetic heterogeneity of motor neuropathies." Neurology 88 (13): 1226–1234. doi: https://doi.org/10.1212/WNL.0000000000003772

  2. Bird, T. D. 1998 September 28 (Updated 2021 May 20). Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. Edited by Ardinger HH, Pagon RA, et al. Adam MP. Seattle, Washington: GeneReviews® [Internet]. Accessed 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1358/

  3. Raymond, Kenneth. 2021. CMT-Associated Genes and Their Related Subtypes: The Definitive Guide. 1st. Detroit: Kenneth Raymond. Accessed November 2021. https://www.cmtausa.org/understanding-cmt/cmt-associated-genes-the-definitive-guide/

  4. Raeymaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendijk, J. E., Baas, F., Barker, D. F., Martin, J. J., De Visser, M., & Bolhuis, P. A. 1991. "Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group." Neuromuscular disorders : NMD, 1 (2): 93–97. doi: https://doi.org/10.1016/0960-8966(91)90055-w

  5. Patel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B. J., Pentao, L., Snipes, G. J., Garcia, C. A., Francke, U., Shooter, E. M., Lupski, J. R., & Suter, U. 1992. "The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A." Nature genetics 1 (3): 59–165. doi: https://doi.org/10.1038/ng0692-159

  6. Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H. W., Terada, S., Nakata, T., Takei, Y., Saito, M., Tsuji, S., Hayashi, Y., & Hirokawa, N. 2001. "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta." Cell 105 (5): 587–597. doi: https://doi.org/10.1016/s0092-8674(01)00363-4

  7. Züchner, S., Mersiyanova, I.V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., Jonghe, P. D., Takahashi, Y., Tsuji, S., Pericak-Vance, M. A., Quattrone... 2004. "Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A." Nature genetics 36 (5): 449–451. doi: https://doi.org/10.1038/ng1341

  8. Clinical Genome Resource. 2020. Clinical Genome Resource. October. Accessed August 2021. https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae6ffeae-9609-47bf-89a9-4863cf6ef05c-2020-10-05T161930.420Z

  9. Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., Morera, B., Del Valle, G., Lupski, J. R., Ekici, A., Pasutto, F., Endele, S., Barrantes, R., Berghoff, C., Berghoff, M., Neundörfer, B., Heuss, D., Dorn, T., Young, P., et al. 2009. "Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models." Neurogenetics 10 (4): 375–376. doi: https://doi.org/10.1007/s10048-009-0213-1

  10. Leal, A., Bogantes-Ledezma, S., Ekici, A. B., Uebe, S., Thiel, C. T., Sticht, H., Berghoff, M., Berghoff, C., Morera, B., Meisterernst, M., & Reis, A. 2018. "The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25." Neurogenetics 19 (4): 215–225. doi: https://doi.org/10.1007/s10048-018-0555-7

​​

  1. Bansagi, B., Griffin, H., Whittaker, R. G., Antoniadi, T., Evangelista, T., Miller, J., Greenslade, M., Forester, N., Duff, J., Bradshaw, A., Kleinle, S., Boczonadi, V., Steele, H., Ramesh, V., Franko, E., Pyle, A., Lochmüller, H., Chinnery, P. F., & Horv. 2017. "Genetic heterogeneity of motor neuropathies." Neurology 88 (13): 1226–1234. doi: https://doi.org/10.1212/WNL.0000000000003772

  2. Bird, T. D. 1998 September 28 (Updated 2021 May 20). Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. Edited by Ardinger HH, Pagon RA, et al. Adam MP. Seattle, Washington: GeneReviews® [Internet]. Accessed 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1358/

  3. Raymond, Kenneth. 2021. CMT-Associated Genes and Their Related Subtypes: The Definitive Guide. 1st. Detroit: Kenneth Raymond. Accessed November 2021. https://www.cmtausa.org/understanding-cmt/cmt-associated-genes-the-definitive-guide/

  4. Raeymaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendijk, J. E., Baas, F., Barker, D. F., Martin, J. J., De Visser, M., & Bolhuis, P. A. 1991. "Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group." Neuromuscular disorders : NMD, 1 (2): 93–97. doi: https://doi.org/10.1016/0960-8966(91)90055-w

  5. Patel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B. J., Pentao, L., Snipes, G. J., Garcia, C. A., Francke, U., Shooter, E. M., Lupski, J. R., & Suter, U. 1992. "The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A." Nature genetics 1 (3): 59–165. doi: https://doi.org/10.1038/ng0692-159

  6. Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H. W., Terada, S., Nakata, T., Takei, Y., Saito, M., Tsuji, S., Hayashi, Y., & Hirokawa, N. 2001. "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta." Cell 105 (5): 587–597. doi: https://doi.org/10.1016/s0092-8674(01)00363-4

  7. Züchner, S., Mersiyanova, I.V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., Jonghe, P. D., Takahashi, Y., Tsuji, S., Pericak-Vance, M. A., Quattrone... 2004. "Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A." Nature genetics 36 (5): 449–451. doi: https://doi.org/10.1038/ng1341

  8. Clinical Genome Resource. 2020. Clinical Genome Resource. October. Accessed August 2021. https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae6ffeae-9609-47bf-89a9-4863cf6ef05c-2020-10-05T161930.420Z

  9. Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., Morera, B., Del Valle, G., Lupski, J. R., Ekici, A., Pasutto, F., Endele, S., Barrantes, R., Berghoff, C., Berghoff, M., Neundörfer, B., Heuss, D., Dorn, T., Young, P., et al. 2009. "Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models." Neurogenetics 10 (4): 375–376. doi: https://doi.org/10.1007/s10048-009-0213-1

  10. Leal, A., Bogantes-Ledezma, S., Ekici, A. B., Uebe, S., Thiel, C. T., Sticht, H., Berghoff, M., Berghoff, C., Morera, B., Meisterernst, M., & Reis, A. 2018. "The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25." Neurogenetics 19 (4): 215–225. doi: https://doi.org/10.1007/s10048-018-0555-7

​​

Associated Gene - HGNC Approved Gene Symbol
 BAG3
Related Subtype
 CMT2JJ
Title of Establishing Publication
Mutations in BAG3 Cause Adult-Onset Charcot-Marie-Tooth Disease
Date of Publication
February 19, 2018
Authors
 Shy, M., Rebelo, A. P., Feely, S. M., Abreu, L. A., Tao, F., Swenson, A., Bacon, C., & Züchner, S.
Original Publication
https://doi.org/10.1136/jnnp-2017-315929
Updated
October 17, 2025
Associated Gene - HGNC Approved Gene Symbol
 GDAP1
Related Subtype
 CMT2K (Autosomal Dominant)
Title of Establishing Publication
The GST Domain of GDAP1 is a Frequent Target of Mutations in the Dominant Form of Axonal Charcot Marie Tooth Type 2K
Date of Publication
August 3, 2010
Authors
 Crimella, C., Tonelli, A., Airoldi, G., Baschirotto, C., D'Angelo, M. G., Bonato, S., Losito, L., Trabacca, A., Bresolin, N., & Bassi, M. T.
Original Publication
https://doi.org/10.1136/jmg.2010.077909
Updated
October 17, 2025
Associated Gene - HGNC Approved Gene Symbol
 GDAP1
Related Subtype
 CMT2K (Autosomal Recessive)
Title of Establishing Publication
A Novel Mutation in the GDAP1 Gene is Associated with Autosomal Recessive Charcot-Marie-Tooth Disease in an Amish Family
Date of Publication
August 13, 2008
Authors
 Xin, B., Puffenberger, E., Nye, L., Wiznitzer, M., & Wang, H. (
Original Publication
https://doi.org/10.1111/j.1399-0004.2008.01018.x
Updated
October 17, 2025
Associated Gene - HGNC Approved Gene Symbol
 HSPB8 (Formerly HSP22)
Related Subtype
 CMT2L
Title of Establishing Publication
Small Heat-Shock Protein 22 Mutated in Autosomal Dominant Charcot-Marie-Tooth Disease Type 2L
Date of Publication
February 1, 2005
Authors
 Tang, B. S., Zhao, G. H., Luo, W., Xia, K., Cai, F., Pan, Q., Zhang, R. X., Zhang, F. F., Liu, X. M., Chen, B., Zhang, C., Shen, L., Jiang, H., Long, Z. G., & Dai, H. P.
Original Publication
https://doi.org/10.1007/s00439-004-1218-3
Updated
October 17, 2025
Associated Gene - HGNC Approved Gene Symbol
 DNM2
Related Subtype
 CMT2M
Title of Establishing Publication
Two Novel Mutations in Dynamin-2 Cause Axonal Charcot-Marie-Tooth Disease.
Date of Publication
July 16, 2007
Authors
 Fabrizi, G. M., Ferrarini, M., Cavallaro, T., Cabrini, I., Cerini, R., Bertolasi, L., & Rizzuto, N.
Original Publication
https://doi.org/10.1212/01.wnl.0000265820.51075.61
Updated
October 17, 2025
Associated Gene - HGNC Approved Gene Symbol
 AARS1 (Formerly AARS, Formerly ALARS)
Related Subtype
 CMT2N
Title of Establishing Publication
A Major Determinant for Binding and Aminoacylation of tRNA(Ala) in Cytoplasmic Alanyl-tRNA Synthetase is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease
Date of Publication
December 31, 2009
Authors
 Latour, P., Thauvin-Robinet, C., Baudelet-Méry, C., Soichot, P., Cusin, V., Faivre, L., Locatelli, M. C., Mayençon, M., Sarcey, A., Broussolle, E., Camu, W., David, A., & Rousson, R.
Original Publication
https://doi.org/10.1016/j.ajhg.2009.12.005.
Updated
October 17, 2025
Associated Gene - HGNC Approved Gene Symbol
 DYNC1H1 (Formerly DNCH1)
Related Subtype
 CMT2O
Title of Establishing Publication
Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease
Date of Publication
August 4, 2011
Authors
 Weedon, M. N., Hastings, R., Caswell, R., Xie, W., Paszkiewicz, K., Antoniadi, T., Williams, M., King, C., Greenhalgh, L., Newbury-Ecob, R., & Ellard, S.
Original Publication
https://doi.org/10.1016/j.ajhg.2011.07.002
Updated
October 17, 2025
Associated Gene - HGNC Approved Gene Symbol
 LRSAM1 (Formerly RIFLE)
Related Subtype
 CMT2P (Autosomal Dominant)
Title of Establishing Publication
A Frameshift Mutation in LRSAM1 is Responsible for a Dominant Hereditary Polyneuropathy
Date of Publication
January 15, 2012
Authors
 Weterman, M. A., Sorrentino, V., Kasher, P. R., Jakobs, M. E., van Engelen, B. G., Fluiter, K., de Wissel, M. B., Sizarov, A., Nürnberg, G., Nürnberg, P., Zelcer, N., Schelhaas, H. J., & Baas, F.
Original Publication
https://doi.org/10.1093/hmg/ddr471
Updated
October 17, 2025
Associated Gene - HGNC Approved Gene Symbol
 LRSAM1 (Formerly RIFLE)
Related Subtype
 CMT2P (Autosomal Recessive)
Title of Establishing Publication
Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease
Date of Publication
August 26, 2010
Authors
 Guernsey, D. L., Jiang, H., Bedard, K., Evans, S. C., Ferguson, M., Matsuoka, M., Macgillivray, C., Nightingale, M., Perry, S., Rideout, A. L., Orr, A., Ludman, M., Skidmore, D. L., Benstead, T., & Samuels, M. E.
Original Publication
https://doi.org/10.1371/journal.pgen.1001081
Updated
October 17, 2025
Associated Gene - HGNC Approved Gene Symbol
 DHTKD1 (Formerly KIAA1630)
Related Subtype
 CMT2Q
Title of Establishing Publication
A Nonsense Mutation in DHTKD1 Causes Charcot-Marie-Tooth Disease Type 2 in a Large Chinese Pedigree
Date of Publication
December 7, 2012
Authors
 Xu, W. Y., Gu, M. M., Sun, L. H., Guo, W. T., Zhu, H. B., Ma, J. F., Yuan, W. T., Kuang, Y., Ji, B. J., Wu, X. L., Chen, Y., Zhang, H. X., Sun, F. T., Huang, W., Huang, L., Chen, S. D., & Wang, Z. G.
Original Publication
https://doi.org/10.1016/j.ajhg.2012.09.018
Updated
October 17, 2025
Associated Gene - HGNC Approved Gene Symbol
 TRIM2
Related Subtype
 CMT2R
Title of Establishing Publication
Deficiency of the E3 Ubiquitin Ligase TRIM2 in Early-Onset Axonal Neuropathy
Date of Publication
August 1, 2013
Authors
 Ylikallio, E., Pöyhönen, R., Zimon, M., De Vriendt, E., Hilander, T., Paetau, A., Jordanova, A., Lönnqvist, T., & Tyynismaa, H.
Original Publication
https://doi.org/10.1093/hmg/ddt149
Updated
October 17, 2025
Associated Gene - HGNC Approved Gene Symbol
 IGHMBP2
Related Subtype
 CMT2S
Title of Establishing Publication
Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2
Date of Publication
November 6, 2014
Authors
 Cottenie, E., Kochanski, A., Jordanova, A., Bansagi, B., Zimon, M., Horga, A., Jaunmuktane, Z., Saveri, P., Rasic, V. M., Baets, J., Bartsakoulia, M., Ploski, R., Teterycz, P., Nikolic, M., Quinlivan, R., Laura, M., Sweeney, M. G., Taroni, F., Lunn, M. P., Moroni, I., … Houlden, H.
Original Publication
https://doi.org/10.1016/j.ajhg.2014.10.002
Updated
October 17, 2025

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