A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy

BACKGROUND: GNE myopathy is characterized by early-adult-onset distal myopathy sparing quadriceps caused by mutations in the GNE gene encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, an enzyme in the sialic-acid synthesis pathway. CASE REPORT: A 27-year-old Korean woman prese...

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Bibliografiske detaljer
Main Authors: Sim, Jae Eun, Hong, Ji-Man, Suh, Gyoung Im, Cho, Hanna, Park, Kyung Seok, Sohn, Eun-Hee, Choi, Young-Chul
Format: Artigo
Sprog:Inglês
Udgivet: Korean Neurological Association 2013
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3840140/
https://ncbi.nlm.nih.gov/pubmed/24285971
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3988/jcn.2013.9.4.280
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