Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy.

Neuromuscul Disord 2011 Mar 5;21(3):219-22. Epub 2011 Jan 5.

Department of Neurology, University of Pittsburgh, Pittsburgh, PA 15213, USA.

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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http://dx.doi.org/10.1016/j.nmd.2010.12.005DOI Listing
March 2011
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