New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7

Neurology. 2007 Jun 5;68(23):2041-2. doi: 10.1212/01.wnl.0000264430.55233.72.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cardiac Myosins / chemistry
  • Cardiac Myosins / genetics*
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / physiopathology
  • Child
  • DNA Mutational Analysis
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics
  • Heart / physiopathology*
  • Humans
  • Male
  • Muscle Weakness / genetics
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology*
  • Muscular Diseases / diagnosis
  • Muscular Diseases / genetics*
  • Muscular Diseases / physiopathology
  • Mutation, Missense / genetics*
  • Myocardium / pathology
  • Myosin Heavy Chains / chemistry
  • Myosin Heavy Chains / genetics*
  • Protein Isoforms / genetics
  • Protein Isoforms / metabolism
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Ventricular Myosins / chemistry
  • Ventricular Myosins / genetics

Substances

  • Genetic Markers
  • MYH7 protein, human
  • Protein Isoforms
  • RNA, Messenger
  • Cardiac Myosins
  • Ventricular Myosins
  • Myosin Heavy Chains