Llwytho...

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Laurà, Matilde, Milani, Micaela, Morbin, Michela, Moggio, Maurizio, Ripolone, Michela, Jann, Stefano, Scaioli, Vidmer, Taroni, Franco, Pareyson, Davide
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Group 2007
Pynciau:
Mynediad Ar-lein: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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