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  • Title: Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy.
    Author: Homayoun H, Khavandgar S, Hoover JM, Mohsen AW, Vockley J, Lacomis D, Clemens PR.
    Journal: Neuromuscul Disord; 2011 Mar; 21(3):219-22. PubMed ID: 21211974.
    Abstract:
    A 25-year-old woman had childhood-onset muscle weakness and dilated cardiomyopathy. She exhibited predominantly distal weakness with early toe walking. Dilated cardiomyopathy required cardiac transplantation at age 15 years. We identified a de-novo, heterozygous, missense mutation, c.2348G>C (p. Arg783Pro), in exon 21 of the MYH7 gene, which encodes slow skeletal muscle fiber/β-cardiac myosin heavy chain protein, that replaces a highly conserved arginine with a proline. This novel mutation that results in the unusual combined cardiac and skeletal muscle phenotype localizes to the essential light chain binding area, a region only previously shown to be mutated in hypertrophic cardiomyopathy.
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