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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Vydáno v:J Clin Neurol
Hlavní autoři: Lee, Jung Hwan, Shin, Ha Young, Park, Hyung Jun, Kim, Se Hoon, Kim, Seung Min, Choi, Young-Chul
Médium: Artigo
Jazyk:Inglês
Vydáno: Korean Neurological Association 2017
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5653620/
https://ncbi.nlm.nih.gov/pubmed/28831785
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3988/jcn.2017.13.4.331
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