Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Dustri-Verlag Dr. Karl Feistle
2017
|
| Materias: | |
| 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 |