title: Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy.
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.
authors.affiliation: Department of Neurology, University of Pittsburgh, Pittsburgh, PA 15213, USA.
authors.forename: Houman
authors.initials: H
authors.lastname: Homayoun
authors.forename: Simin
authors.initials: S
authors.lastname: Khavandgar
authors.forename: Jacqueline M
authors.initials: JM
authors.lastname: Hoover
authors.forename: Al-Walid
authors.initials: AW
authors.lastname: Mohsen
authors.forename: Jerry
authors.initials: J
authors.lastname: Vockley
authors.forename: David
authors.initials: D
authors.lastname: Lacomis
authors.forename: Paula R
authors.initials: PR
authors.lastname: Clemens
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics; D024722:Cardiac Myosins / Q000235:genetics*; D009202:Cardiomyopathies / Q000150:complications / Q000235:genetics*; D049310:Distal Myopathies / Q000150:complications / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D011392:Proline / Q000235:genetics
chemical_list: C501641:MYH7 protein, human; D001120:Arginine; D011392:Proline; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains