Evaluation of SORD mutations as a novel cause of Charcot‐Marie‐Tooth disease

Biallelic mutations in the sorbitol dehydrogenase (SORD) encoding gene were recently identified as a common genetic cause in autosomal‐recessive CMT patients. Here, we investigated the clinical, genetic, and electrophysiological characteristics of three CMT patients with biallelic SORD mutations fro...

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Detalles Bibliográficos
Autores principales: Yuan, Ru‐Ying, Ye, Zi‐Ling, Zhang, Xiao‐Rong, Xu, Liu‐Qing, He, Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818235/
https://www.ncbi.nlm.nih.gov/pubmed/33314640
http://dx.doi.org/10.1002/acn3.51268

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818235/
https://www.ncbi.nlm.nih.gov/pubmed/33314640
http://dx.doi.org/10.1002/acn3.51268

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