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GENATLAS PHENOTYPE
last update : 11-03-2011
Symbol CMH10
Location 12q23-q24.3
Name cardiomyopathy, familial, hypertrophic, 10
Other name(s) cardiomyopathy, familial hypertrophic, 7B
Corresponding gene MYL2
Other symbol(s) FHC, CMH7B
Main clinical features
  • characterized by several changes in cardiac structure including myofibrillar disarray and thickening of the left ventricle, papillary muscles, and/or septum (PMID: 20855589))
  • hypertrophy of the cardiac papillary muscles causing mid cavity obstruction
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
    Gene product
    Name myosin, light polypeptide 2, regulatory (MYL2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function N47K and R58Q, located directly in or near the single Ca(2+)-Mg(2+) binding site, altering Ca(2+) binding
    Remark(s) . R58Q and N47K mutations alter the mechanical properties of the myosin neck region, leading to altered load-dependent kinetics that may explain the observed mutant-induced CMH phenotypes (PMID: 20855589))
    Genotype/Phenotype correlations
  • R58Q mutation appears to cause a more severe phenotype characterized by a rapidly progressing hypertrophy and several instances of sudden cardiac death