Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy

被引：30

作者：

Homayoun, Houman ^{[1
]}

Khavandgar, Simin ^{[1
]}

Hoover, Jacqueline M. ^{[2
]}

Mohsen, Al-Walid ^{[2
]}

Vockley, Jerry ^{[2
,3
]}

Lacomis, David ^{[1
]}

Clemens, Paula R. ^{[1
,4
]}

机构：

[1] Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15213 USA

[2] Univ Pittsburgh, Dept Pediat, Pittsburgh, PA 15213 USA

[3] Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA 15213 USA

[4] Dept Vet Affairs Med Ctr, Neurol Serv, Pittsburgh, PA USA

来源：

NEUROMUSCULAR DISORDERS | 2011年 / 21卷 / 03期

关键词：

Laing early-onset distal myopathy; Dilated cardiomyopathy; Myosin heavy chain; MYOSIN STORAGE MYOPATHY; MISSENSE MUTATION; SKELETAL;

D O I：

10.1016/j.nmd.2010.12.005

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：219 / 222

页数：4

共 18 条

[1] Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes [J].