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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...

詳細記述

保存先:
書誌詳細
主要な著者: Malicdan, MCV, Noguchi, S, Nishino, I
フォーマット: Artigo
言語:Inglês
出版事項: Pacini Editore SpA 2007
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2949308/
https://ncbi.nlm.nih.gov/pubmed/18646567
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