Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation

Rare forms of autosomal-dominant Charcot-Marie-Tooth disease (AD-CMT) may be associated with mutations in Fibulin-5 (FBLN5) as AD-CMT is genetically heterogeneous. Here, we report the first pathological study of an Asian family. The proband was a 46-year-old man with slowly progressive distal numbne...

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Detalles Bibliográficos
Autores principales: Cheng, Si, Lv, He, Zhang, Wei, Wang, Zhaoxia, Shi, Xin, Liang, Wei, Yuan, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dustri-Verlag Dr. Karl Feistle 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541264/
https://www.ncbi.nlm.nih.gov/pubmed/28332470
http://dx.doi.org/10.5414/NP301011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541264/
https://www.ncbi.nlm.nih.gov/pubmed/28332470
http://dx.doi.org/10.5414/NP301011

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