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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Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Tajima, Youichi, Uyama, Eiichiro, Go, Shinji, Sato, Chihiro, Tao, Nodoka, Kotani, Masaharu, Hino, Hirotake, Suzuki, Akemi, Sanai¶, Yutaka, Kitajima, Ken, Sakuraba, Hitoshi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Investigative Pathology 2005
Konular:
Original Research Paper
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1602383/
https://ncbi.nlm.nih.gov/pubmed/15793292
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