Phenotypic heterogeneity in patients with NEFL‐related Charcot–Marie–Tooth disease

Charcot–Marie–Tooth disease (CMT) is the most common hereditary peripheral neuropathy. Mutations in the neurofilament light polypeptide (NEFL) gene produce diverse clinical phenotypes, including demyelinating (CMT1F), axonal (CMT2E), and intermediate (CMTDIG) neuropathies. From 2005 to 2020, 1,143 K...

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Detalles Bibliográficos
Autores principales: Kim, Hye Jin, Kim, Sang Beom, Kim, Hyun Su, Kwon, Hye Mi, Park, Jae Hong, Lee, Ah Jin, Lim, Si On, Nam, Soo Hyun, Hong, Young Bin, Chung, Ki Wha, Choi, Byung‐Ok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8830812/
https://www.ncbi.nlm.nih.gov/pubmed/35044100
http://dx.doi.org/10.1002/mgg3.1870

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8830812/
https://www.ncbi.nlm.nih.gov/pubmed/35044100
http://dx.doi.org/10.1002/mgg3.1870

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