Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation

S Overeem; H J Schelhaas; P J Blijham; M I Grootscholten; H J ter Laak; J Timmermans; A van den Wijngaard; M J Zwarts

doi:10.1016/j.nmd.2007.02.007

Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation

Neuromuscul Disord. 2007 Jun;17(6):490-3. doi: 10.1016/j.nmd.2007.02.007. Epub 2007 Mar 23.

Authors

S Overeem¹, H J Schelhaas, P J Blijham, M I Grootscholten, H J ter Laak, J Timmermans, A van den Wijngaard, M J Zwarts

Affiliation

¹ Department of Clinical Neurophysiology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. [email protected]

PMID: 17383184
DOI: 10.1016/j.nmd.2007.02.007

Abstract

Mutations in the myosin heavy chain gene (MYH7) can cause several distinct phenotypes depending on the location of the mutation: hypertrophic cardiomyopathy (several exons), myosin storage myopathy (exon 37/39) or Laing distal myopathy (exons 32-36). Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16).

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Biopsy
Cardiac Myosins / genetics*
Cardiomyopathy, Hypertrophic / genetics*
Distal Myopathies / genetics*
Female
Humans
Middle Aged
Muscle, Skeletal / pathology
Muscle, Skeletal / physiopathology
Mutation / genetics*
Myosin Heavy Chains / genetics*
Pedigree

Substances

MYH7 protein, human
Cardiac Myosins
Myosin Heavy Chains