Missense mutations of ACTA1 cause dominant congenital myopathy with cores

J Med Genet. 2004 Nov;41(11):842-8. doi: 10.1136/jmg.2004.020271.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actins / genetics*
  • Adolescent
  • Adult
  • Aged
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Myopathies, Structural, Congenital / diagnosis*
  • Myopathies, Structural, Congenital / genetics*
  • Myopathies, Structural, Congenital / pathology
  • Pedigree

Substances

  • Actins

Associated data

  • OMIM/102610
  • OMIM/117000
  • OMIM/255320