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GENATLAS PHENOTYPE

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

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