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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-01-2014
Symbol CMD1X
Location 9q31.2
Name cardiomyopathy, dilated 1X
Corresponding gene FKTN
Main clinical features
  • dilated cardiomyopathy and mild or no limb-girdle muscle involvement, normal intelligence, and no history of seizures, with early death (adolescent or young adult)
  • at cardiac muscle biopsy, altered glycosylation of alpha-dystroglycan similar to that seen in Fukuyama-type congenital muscular dystrophy
  • Genetic determination
    Function/system disorder