Article
Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation.
Neuromuscular disorders : NMD - 1 Aug 2014
Finsterer Josef, Brandau Oliver, Stöllberger Claudia, Wallefeld William, Laing Nigel G, Laccone Franco
Abstract excerpt
Myosin-heavy-chain 7 (MYH7)-myopathy manifests clinically with a distal, scapuloperoneal, limb-girdle (proximal), or axial distribution and may involve the respiratory muscles. Cardiac involvement is frequent, ranging from relaxation impairment to severe dilative cardiomyopathy. Progression and earlier onset of cardiac disease in successive generations with MYH7-myopathy is unreported. In a five-generation family...
Topics
- Adolescent
- Adult
- Aged
- Cardiac Myosins
- Chest Pain
- Child, Preschool
- Family
- Female
- Heart
- Humans
- Male
- Middle Aged
- Muscular Diseases
- Mutation
- Myosin Heavy Chains
- Pedigree