Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)

Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive (AR) demyelinating neuropathy associated to SH3TC2 mutations, characterized by early onset, spine deformities, and cranial nerve involvement.We screened 43 CMT4 patients (36 index cases) with AR inheritance, demyelinating nerve co...

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Detalhes bibliográficos
Publicado no:J Peripher Nerv Syst
Main Authors: Piscosquito, Giuseppe, Saveri, Paola, Magri, Stefania, Ciano, Claudia, Gandioli, Claudia, Morbin, Michela, Bella, Daniela D., Moroni, Isabella, Taroni F, Franco, Pareyson, Davide
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5592964/
https://ncbi.nlm.nih.gov/pubmed/27231023
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jns.12175
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