Experts in CMT Nerve Logo.png

CMT Subtypes

Original

Discovery Publications

Reference Database

Select a Type from the Dropdown to Browse

the Related Subtype Discoveries

arrow&v
Loadin_Spinner-1s-200px.gif

Results

-or-

Search by Gene, by Subtype, or  by Year of Discovery

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

Gene Names/Symbols and Subtypes Should Be 

Abbreviated as Shown in the Above Example

Loadin_Spinner-1s-200px.gif

Results

Results

arrow&v

CMT Subtypes

Original

Discovery Publications

Reference Database

Experts in CMT Nerve Logo.png
AdobeStock_220269704.jpeg

 

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 122 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 157 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 SORD-deficiency CMT, 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 CMTer 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 2017)   (Bird 1998 September 28 (Updated 2021 May 20))    (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 1991)  , but then further refined to the specific gene with the CMT1A-causing mutation, the PMP22 gene (Patel 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 2001)  . However, in 2004, researchers discovered the true culprit was a mutation in the MFN2 gene (Züchner 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 (A. H. Leal 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 (A. H. Leal 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.

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

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

Gene:

17p11.2 Duplication (Precursor Discovery to PMP22 Duplication Discovery)

CMT1A

Related Subtype:

Title of Establishing Publication:

Duplication in Chromosome 17p11.2 in Charcot-Marie-Tooth Neuropathy Type 1A (CMT 1A). The HMSN Collaborative Research Group

Date of Publication:

January 1, 1991

Authors:

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.

Original Publication:

Gene:

PMP22

CMT1A

Related Subtype:

Title of Establishing Publication:

The Gene for the Peripheral Myelin Protein PMP-22 is a Candidate for Charcot-Marie-Tooth disease Type 1A

Date of Publication:

June 1, 1992

Authors:

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.

Original Publication:

Gene:

MPZ

CMT1B

Related Subtype:

Title of Establishing Publication:

Charcot-Marie-Tooth neuropathy type 1B is Associated with Mutations of the Myelin P0 Gene

Date of Publication:

September 1, 1993

Authors:

Hayasaka, K., Himoro, M., Sato, W., Takada, G., Uyemura, K., Shimizu, N., Bird, T.D.,
Conneally, P.M., and Chance, P.F.

Original Publication:

Gene:

LITAF

CMT1C

Related Subtype:

Title of Establishing Publication:

Mutation of a Putative Protein Degradation Gene LITAF/SIMPLE in Charcot-Marie-Tooth Disease 1C

Date of Publication:

January 14, 2003

Authors:

Street, V. A., Bennett, C. L., Goldy, J. D., Shirk, A. J., Kleopa, K. A., Tempel, B. L., Lipe, H. P.,
Scherer, S. S., Bird, T. D., & Chance, P. F.

Original Publication:

Gene:

EGR2 (Formerly KROX20)

CMT1D

Related Subtype:

Title of Establishing Publication:

Gene are Associated with Hereditary Myelinopathies

Date of Publication:

April 1, 1998

Authors:

Warner, L. E., Mancias, P., Butler, I. J., McDonald, C. M., Keppen, L., Koob, K. G., & Lupski, J. R.

Original Publication:

Gene:

PMP22

CMT1E

Related Subtype:

Title of Establishing Publication:

A Unique Point Mutation in the PMP22 Gene is Associated with Charcot-Marie-Tooth Disease and Deafness

Date of Publication:

June 1, 1999

Authors:

Kovach, M. J., Lin, J. P., Boyadjiev, S., Campbell, K., Mazzeo, L., Herman, K., Rimer, L. A., Frank, W., Llewellyn, B., Jabs, E. W., Gelber, D., & Kimonis, V. E.

Original Publication:

Gene:

NEFL

CMT1F

Related Subtype:

Title of Establishing Publication:

Mutations in the Neurofilament Light Chain Gene (NEFL) Cause Early Onset Severe Charcot-Marie-Tooth Disease

Date of Publication:

March 3, 2003

Authors:

Jordanova, A., De Jonghe, P., Boerkoel, C. F., Takashima, H., De Vriendt, E., Ceuterick, C., Martin, J. J., Butler, I. J., Mancias, P., Papasozomenos, S., Terespolsky, D., Potocki, L., Brown, C. W., Shy, M., Rita, D. A., Tournev, I., Kremensky, I., Lupski, J. R., & Timmerman, V

Original Publication:

Gene:

PMP2

CMT1G

Related Subtype:

Title of Establishing Publication:

De novo PMP2 Mutations in Families with Type 1 Charcot-Marie-Tooth Disease

Date of Publication:

June 6, 2016

Authors:

Motley, W. W., Palaima, P., Yum, S. W., Gonzalez, M. A., Tao, F., Wanschitz, J. V., Strickland, A. V., Löscher, W. N., De Vriendt, E., Koppi, S., Medne, L., Janecke, A. R., Jordanova, A., Züchner, S., & Scherer, S. S.

Original Publication:

Gene:

FBLB5

CMT1H

Related Subtype:

Title of Establishing Publication:

Demyelinating Charcot-Marie-Tooth Neuropathy Associated with FBLN5 Mutations

Date of Publication:

August 5, 2020

Authors:

Safka Brozkova, D., Stojkovic, T., Haberlová, J., Mazanec, R., Windhager, R., Fernandes Rosenegger, P., Hacker, S., Züchner, S., Kochański, A., Leonard-Louis, S., Francou, B., Latour, P., Senderek, J., Seeman, P., & Auer-Grumbach, M.

Original Publication:

Gene:

POLR3B

CMT1I

Related Subtype:

Title of Establishing Publication:

De novo Variants in POLR3B Cause Ataxia, Spasticity, and Demyelinating Neuropathy

Date of Publication:

January 7, 2021

Authors:

Oegema, R., van Binsbergen, E., Baskin, B., Bernard, G., Fribourg, S., Coulombe, B., & Yoon, G.

Original Publication:

Gene:

PMP22

HNPP (Deletion)

Related Subtype:

Title of Establishing Publication:

DNA Deletion Associated with Hereditary Neuropathy with Liability to Pressure Palsies

Date of Publication:

January 15, 1993

Authors:

Chance, P. F., Alderson, M. K., Leppig, K. A., Lensch, M. W., Matsunami, N., Smith, B., Swanson, P. D., Odelberg, S. J., Disteche, C. M., & Bird, T. D.

Original Publication:

Gene:

PMP22

HNPP (Point Mutation - Other than Deletion)

Related Subtype:

Title of Establishing Publication:

A Novel PMP22 Mutation Ser22Phe in a Family with Hereditary Neuropathy with Liability to Pressure Palsies and CMT1A Phenotypes

Date of Publication:

June 17, 2004

Authors:

Kleopa, K. A., Georgiou, D. M., Nicolaou, P., Koutsou, P., Papathanasiou, E., Kyriakides, T., & Christodoulou, K.

Original Publication: