A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities

Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves. Mutations in MPZ have been associated with different Charcot–Marie–Tooth disease (CMT) phenotypes (CMT1B, CMT2I/J, CMTDI), Dejerine–Sottas syndrome, and congenital hypomyelination neuropathy. Here, we report pheno...

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Detalles Bibliográficos
Autores principales: Duan, Xiaohui, Gu, Weihong, Hao, Ying, Wang, Renbin, Wen, Hong, Sun, Shaojie, Jiao, Jinsong, Fan, Dongsheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2016
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054897/
https://www.ncbi.nlm.nih.gov/pubmed/27774063
http://dx.doi.org/10.3389/fnagi.2016.00222

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054897/
https://www.ncbi.nlm.nih.gov/pubmed/27774063
http://dx.doi.org/10.3389/fnagi.2016.00222

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