A novel de novo mutation of β-cardiac myosin heavy chain gene found in a twelve-year-old boy with hypertrophic cardiomyopathy

J Genet. 2014 Aug;93(2):557-60. doi: 10.1007/s12041-014-0414-8.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Cardiac Myosins / genetics*
  • Cardiomyopathy, Hypertrophic / diagnosis*
  • Cardiomyopathy, Hypertrophic / genetics*
  • Child
  • DNA Mutational Analysis
  • Genetic Association Studies
  • Humans
  • Male
  • Mutation, Missense*
  • Myosin Heavy Chains / genetics*

Substances

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