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GENATLAS PHENOTYPE
last update : 16-12-2009
Symbol CMD1CC
Location 1p31.1
Name cardiomyopathy, dilated or hypertrophic 1 CC
Corresponding gene NEXN
Main clinical features
  • progressive disturbance in atrioventricular conduction and depression of cardiac contractility, without conduction system disease, in any cases isolated left ventricular noncompaction
  • onset of dilated cardiomyopathy in the fifth or sixth decade of life
  • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
    Remark(s)
  • Q131E mutation decreased the binding of full-length NEXN to alpha -actin and abolished the interaction between the fragment of actin-binding domain and alpha-actin (PMID: 20970104))