Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea

BACKGROUND AND PURPOSE: Mutations in collagen VI-related genes (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). These were previously believed to be separate disease entities, but they are now both classified as collagen VI-related myopathies...

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Detalles Bibliográficos
Autores principales: Lee, Jung Hwan, Shin, Ha Young, Park, Hyung Jun, Kim, Se Hoon, Kim, Seung Min, Choi, Young-Chul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Neurological Association 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653620/
https://www.ncbi.nlm.nih.gov/pubmed/28831785
http://dx.doi.org/10.3988/jcn.2017.13.4.331

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653620/
https://www.ncbi.nlm.nih.gov/pubmed/28831785
http://dx.doi.org/10.3988/jcn.2017.13.4.331

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