Nationwide patient registry for GNE myopathy in Japan

BACKGROUND: GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene. This study aimed to (1) develop a nationwide patient registry for GNE myopathy in order to facilitate the planning of...

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Bibliografske podrobnosti
Main Authors: Mori-Yoshimura, Madoka, Hayashi, Yukiko K, Yonemoto, Naohiro, Nakamura, Harumasa, Murata, Miho, Takeda, Shin’ichi, Nishino, Ichizo, Kimura, En
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2014
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4203883/
https://ncbi.nlm.nih.gov/pubmed/25303967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0150-4
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