Distal Myopathy with Rimmed Vacuoles : Impaired O-Glycan Formation in Muscular Glycoproteins

Distal myopathy with rimmed vacuoles (DMRV), is an autosomal recessive disorder with early adult onset, displays distal dominant muscular involvement and is characterized by the presence of numerous rimmed vacuoles in the affected muscle fibers. The pathophysiology of DMRV has not been clarified yet...

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Detalhes bibliográficos
Main Authors: Tajima, Youichi, Uyama, Eiichiro, Go, Shinji, Sato, Chihiro, Tao, Nodoka, Kotani, Masaharu, Hino, Hirotake, Suzuki, Akemi, Sanai¶, Yutaka, Kitajima, Ken, Sakuraba, Hitoshi
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2005
Assuntos:
Original Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1602383/
https://ncbi.nlm.nih.gov/pubmed/15793292
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