Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy

作者：Homayoun Houman; Khavandgar Simin; Hoover Jacqueline M; Mohsen Al Walid; Vockley Jerry; Lacomis David; Clemens Paula R^*

来源：Neuromuscular Disorders, 2011, 21(3): 219-222.

DOI：10.1016/j.nmd.2010.12.005

• Laing early-onset distal myopathy
• Dilated cardiomyopathy
• Myosin heavy chain

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/beta-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 carcliomyopathy. Published by Elsevier B.V.

• 出版日期2011-3