Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene

Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder characterized by muscle weakness and the presence of nemaline bodies (rods) in skeletal muscle. Disease-causing mutations have been reported in five genes, each encoding a protein component of the sarcomeric thin filament....

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Main Authors: Ilkovski, Biljana, Cooper, Sandra T., Nowak, Kristen, Ryan, Monique M., Yang, Nan, Schnell, Christina, Durling, Hayley J., Roddick, Laurence G., Wilkinson, Ian, Kornberg, Andrew J., Collins, Kevin J., Wallace, Geoff, Gunning, Peter, Hardeman, Edna C., Laing, Nigel G., North, Kathryn N.
格式: Artigo
語言:Inglês
出版: The American Society of Human Genetics 2001
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226120/
https://ncbi.nlm.nih.gov/pubmed/11333380
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