Rapid progression of late onset axonal Charcot–Marie–Tooth disease associated with a novel MPZ mutation in the extracellular domain

Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves where it plays an essential role in myelin formation and adhesion. MPZ gene mutations are usually responsible for demyelinating neuropathies, namely Charcot–Marie–Tooth (CMT) type 1B, Déjèrine–Sottas neuropathy and...

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Bibliographische Detailangaben
Hauptverfasser: Laurà, Matilde, Milani, Micaela, Morbin, Michela, Moggio, Maurizio, Ripolone, Michela, Jann, Stefano, Scaioli, Vidmer, Taroni, Franco, Pareyson, Davide
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2007
Schlagworte:
Short Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2117588/
https://ncbi.nlm.nih.gov/pubmed/17940173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2006.112276
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