A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.

Abstract

MYH7 mutations are an established cause of Laing distal myopathy, myosin storage myopathy, and cardiomyopathy, as well as additional myopathy subtypes. We report a novel MYH7 mutation (p.Leu1597Arg) that arose de novo in two unrelated probands. Proband 1 has a myopathy characterized by distal weakness and prominent contractures and histopathology typical of multi-minicore disease. Proband 2 has an axial myopathy and histopathology consistent with congenital fiber type disproportion. These cases highlight the broad spectrum of clinical and histological patterns associated with MYH7 mutations, and provide further evidence that MYH7 is likely responsible for a greater proportion of congenital myopathies than currently appreciated.

• Authors: Nigel F Clarke, Kimberly Amburgey, James Teener, Sandra Camelo-Piragua, Akanchha Kesari, Jaya Punetha, Leigh B Waddell, Mark Davis, Nigel G Laing, Nicole Monnier, Kathryn N North, Eric P Hoffman, James J Dowling
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 23 Issue 5 Pg. 432-6 (May 2013) ISSN: 1873-2364 [Electronic] England
• PMID: 23478172 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 Elsevier B.V. All rights reserved.

Chemical References

• MYH7 protein, human
• Cardiac Myosins
• Myosin Heavy Chains

Topics

• Adolescent
• Adult
• Cardiac Myosins (genetics)
• Female
• Genetic Predisposition to Disease
• Humans
• Muscular Diseases (diagnosis, genetics, pathology)
• Mutation (genetics)
• Myosin Heavy Chains (genetics)