Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Tibial muscular dystrophy (TMD) is an autosomal dominant late-onset distal myopathy linked to chromosome 2q31. The linked region includes the giant TTN gene, which encodes the central sarcomeric protein, titin. We have previously shown a secondary calpain-3 defect to be associated with TMD, which fu...

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Hlavní autoři: Hackman, Peter, Vihola, Anna, Haravuori, Henna, Marchand, Sylvie, Sarparanta, Jaakko, de Seze, Jerome, Labeit, Siegfried, Witt, Christian, Peltonen, Leena, Richard, Isabelle, Udd, Bjarne
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2002
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC379188/
https://ncbi.nlm.nih.gov/pubmed/12145747
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