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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

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Associated Gene - HGNC Approved Gene Symbol
 SIGMAR1 (Formerly SRBP)
Related Subtype
 dHMN-SIGMAR1
Title of Establishing Publication
A SIGMAR1 Splice-Site Mutation Causes Distal Hereditary Motor Neuropathy.
Date of Publication
June 16, 2015
Authors
 Li, X., Hu, Z., Liu, L., Xie, Y., Zhan, Y., Zi, X., Wang, J., Wu, L., Xia, K., Tang, B., & Zhang, R.
Original Publication
https://doi.org/10.1212/WNL.0000000000001680
Updated
December 11, 2024
Associated Gene - HGNC Approved Gene Symbol
 SYT2
Related Subtype
 dHMN-SYT2
Title of Establishing Publication
Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy
Date of Publication
September 4, 2014
Authors
 Herrmann, D. N., Horvath, R., Sowden, J. E., Gonzalez, M., Sanchez-Mejias, A., Guan, Z., Whittaker, R. G., Almodovar, J. L., Lane, M., Bansagi, B., Pyle, A., Boczonadi, V., Lochmüller, H., Griffin, H., Chinnery, P. F., Lloyd, T. E., Littleton, J. T., & Züchner, S.
Original Publication
https://doi.org/10.10CHCHD1016/j.ajhg.2014.08.007
Updated
December 11, 2024
Associated Gene - HGNC Approved Gene Symbol
 VWA1 (Formerly WARP)
Related Subtype
 dHMN-VWA1
Title of Establishing Publication
An Ancestral 10-bp Repeat Expansion in VWA1 Causes Recessive Hereditary Motor Neuropathy
Date of Publication
January 18, 2021
Authors
 Pagnamenta, A. T., Kaiyrzhanov, R., Zou, Y., Da'as, S. I., Maroofian, R., Donkervoort, S., Dominik, N., Lauffer, M., Ferla, M. P., Orioli, A., Giess, A., Tucci, A., Beetz, C., Sedghi, M., Ansari, B., Barresi, R., Basiri, K., Cortese, A., Elgar, G., Fernandez-Garcia, M. A., … Houlden, H.
Original Publication
https://doi.org/10.1093/brain/awaa420
Updated
December 11, 2024
Associated Gene - HGNC Approved Gene Symbol
 UBE3C (Formerly KIAA0010)
Related Subtype
 dHMN1-UBE3C
Title of Establishing Publication
Novel Gene-Intergenic Fusion Involving Ubiquitin E3 Ligase UBE3C Causes Distal Hereditary Motor Neuropathy
Date of Publication
March 1, 2023
Authors
 Cutrupi, A.N., Narayanan, R.K., Perez-Siles, G., Grosz, B.R., Lai, K., Boyling, A., Ellis, M., Lin, R.C.Y., Neumann, B., Mao, D., Uesugi, M., Nicholson, G.A., Vucic, S., Saporta, M.A., & Kennerson, M.L.
Original Publication
https://doi.org/10.1093/brain/awac424
Updated
December 11, 2024
Associated Gene - HGNC Approved Gene Symbol
 PLEKHG5
Related Subtype
 dSMA-4
Title of Establishing Publication
The Nuclear Factor KappaB-Activator Gene PLEKHG5 is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset
Date of Publication
July 1, 2007
Authors
 Maystadt, I., Rezsöhazy, R., Barkats, M., Duque, S., Vannuffel, P., Remacle, S., Lambert, B., Najimi, M., Sokal, E., Munnich, A., Viollet, L., & Verellen-Dumoulin, C.
Original Publication
https://doi.org/10.1086/518900
Updated
December 11, 2024
Associated Gene - HGNC Approved Gene Symbol
 DNAJB2 (Formerly HSJ1)
Related Subtype
 dSMA-5
Title of Establishing Publication
A Rare Recessive Distal Hereditary Motor Neuropathy with HSJ1 Chaperone Mutation
Date of Publication
April 20, 2012
Authors
 Blumen, S. C., Astord, S., Robin, V., Vignaud, L., Toumi, N., Cieslik, A., Achiron, A., Carasso, R. L., Gurevich, M., Braverman, I., Blumen, N., Munich, A., Barkats, M., & Viollet, L.
Original Publication
https://doi.org/10.1002/ana.22684
Updated
December 11, 2024
Associated Gene - HGNC Approved Gene Symbol
 VRK1
Related Subtype
 dSMA-VRK1
Title of Establishing Publication
Novel Motor Phenotypes in Patients with VRK1 Mutations without Pontocerebellar Hypoplasia
Date of Publication
July 5, 2016
Authors
 Stoll, M., Teoh, H., Lee, J., Reddel, S., Zhu, Y., Buckley, M., Sampaio, H., Roscioli, T., Farrar, M., & Nicholson, G.
Original Publication
https://doi.org/10.1212/WNL.0000000000002813
Updated
December 11, 2024
Associated Gene - HGNC Approved Gene Symbol
 UBA1 (Formerly UBE1, Formerly GXP1)
Related Subtype
 dSMAX-2
Title of Establishing Publication
Rare Missense and Synonymous Variants in UBE1 are Associated with X-Linked Infantile Spinal Muscular Atrophy
Date of Publication
January 10, 2008
Authors
 Ramser, J., Ahearn, M. E., Lenski, C., Yariz, K. O., Hellebrand, H., von Rhein, M., Clark, R. D., Schmutzler, R. K., Lichtner, P., Hoffman, E. P., Meindl, A., & Baumbach-Reardon, L.
Original Publication
https://doi.org/10.1016/j.ajhg.2007.09.009
Updated
December 11, 2024
Associated Gene - HGNC Approved Gene Symbol
 ATP7A
Related Subtype
 dSMAX-3
Title of Establishing Publication
Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy
Date of Publication
March 12, 2010
Authors
 Kennerson, M. L., Nicholson, G. A., Kaler, S. G., Kowalski, B., Mercer, J. F., Tang, J., Llanos, R. M., Chu, S., Takata, R. I., Speck-Martins, C. E., Baets, J., Almeida-Souza, L., Fischer, D., Timmerman, V., Taylor, P. E., Scherer, S. S., Ferguson, T. A., Bird, T. D., De Jonghe, P., Feely, S. M., … Garbern, J. Y.
Original Publication
https://doi.org/10.1016/j.ajhg.2010.01.027
Updated
December 11, 2024

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