Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6)

J Med Genet. 2004 Apr;41(4):309-14. doi: 10.1136/jmg.2003.011973.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Cardiomyopathy, Hypertrophic / complications
  • Cardiomyopathy, Hypertrophic / diagnosis
  • Cardiomyopathy, Hypertrophic / genetics*
  • Child
  • Child, Preschool
  • Deafness / complications
  • Deafness / genetics*
  • Electrocardiography
  • Female
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Myosin Heavy Chains / genetics*
  • Pedigree

Substances

  • myosin VI
  • Myosin Heavy Chains