Charcot–Marie–Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin

Charcot–Marie–Tooth type 2B (CMT2B) is a peripheral ulcero-mutilating neuropathy caused by four missense mutations in the rab7a gene. CMT2B is clinically characterized by prominent sensory loss, distal muscle weakness leading to muscle atrophy, high frequency of foot ulcers and infections that often...

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Detalles Bibliográficos
Autores principales: Cogli, Laura, Progida, Cinzia, Thomas, Claire L., Spencer-Dene, Bradley, Donno, Claudia, Schiavo, Giampietro, Bucci, Cecilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2012
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3549248/
https://www.ncbi.nlm.nih.gov/pubmed/23179371
http://dx.doi.org/10.1007/s00401-012-1063-8

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