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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Detalles Bibliográficos
Autores principales: Park, Yoonhong, Park, Myung Seok, Sung, Duk Hyun, Sohn, Ji Yeon, Ki, Chang-Seok, Kim, Du-Hwan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Academy of Rehabilitation Medicine 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026620/
https://www.ncbi.nlm.nih.gov/pubmed/24855628
http://dx.doi.org/10.5535/arm.2014.38.2.292

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026620/
https://www.ncbi.nlm.nih.gov/pubmed/24855628
http://dx.doi.org/10.5535/arm.2014.38.2.292

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