Perspectives on Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy?

Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an adult onset slowly progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that encodes a bifunctional enzyme which catalyzes the rate-l...

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Detalhes bibliográficos
Main Authors: Malicdan, MCV, Noguchi, S, Nishino, I
Formato: Artigo
Idioma:Inglês
Publicado em: Pacini Editore SpA 2007
Assuntos:
The Japanese–French Workshop
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2949308/
https://ncbi.nlm.nih.gov/pubmed/18646567
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