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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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Hauptverfasser: | , , , , , , , |
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Format: | Artigo |
Sprache: | Inglês |
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BioMed Central
2014
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Online Zugang: | 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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