Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant

Ullrich congenital muscular dystrophy (UCMD) is characterized by congenital weakness, proximal joint contractures, and hyperlaxity of distal joints. UCMD is basically due to a defect in extra cellular matrix protein, collagen type VI. A 37-year-old woman who cannot walk independently visited our out...

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Dades bibliogràfiques
Autors principals: Park, Yoonhong, Park, Myung Seok, Sung, Duk Hyun, Sohn, Ji Yeon, Ki, Chang-Seok, Kim, Du-Hwan
Format: Artigo
Idioma:Inglês
Publicat: Korean Academy of Rehabilitation Medicine 2014
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4026620/
https://ncbi.nlm.nih.gov/pubmed/24855628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5535/arm.2014.38.2.292
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