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GENATLAS PHENOTYPE
last update : 06-04-2021
Symbol CMD1AA
Location 1q43
Name cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction (LVNC)
Corresponding gene ACTN2
Main clinical features
  • dilated cardiomyopathy, with marked dilation of both ventricles, myocyte hypertrophy, and interstitial fibrosis
  • also hypertrophic cardiomyopathy who were diagnosed in the second to fourth decades of life and who had maximum left ventricular wall thicknesses
  • Genetic determination autosomal dominant
    Related entries . including cardiomyopathy, hypertrophic, 23, with or without LVNC (CMH23)
    Function/system disorder cardiovascular
    Type disease
    Remark(s)