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Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients

Distal myopathy with rimmed vacuoles (DMRV) is a rare, autosomal, recessive inherited disease caused by mutations in the GNE gene. DMRV is an adult-onset disorder characterized by progressive muscle atrophy and weakness, which initially involves the distal muscles with quadriceps sparing. To date, &...

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Publicat a:Exp Ther Med
Autors principals: Su, Feifei, Miao, Jing, Liu, Xuemei, Wei, Xiaojing, Yu, Xuefan
Format: Artigo
Idioma:Inglês
Publicat: D.A. Spandidos 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6090448/
https://ncbi.nlm.nih.gov/pubmed/30112071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2018.6344
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