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NOVEL MUTATIONS WIDEN THE PHENOTYPIC SPECTRUM OF SLOW SKELETAL/β-CARDIAC MYOSIN (MYH7) DISTAL MYOPATHY
Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/β-cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy. The mechanisms by which different phenotypes are produced by mutations in...
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
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2014
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| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4112555/ https://ncbi.nlm.nih.gov/pubmed/24664454 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22553 |
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