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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-01-2014
Symbol CMD1HH
Location 10q26.2
Name cardiomyopathy, dilated 1 HH
Corresponding gene BAG3
Main clinical features
  • adult onset, variable phenotype including advanced heart failure or minimal features
  • lack of penetrance
  • Genetic determination autosomal dominant
    Function/system disorder
    Type disease
    Gene product
    Name BCL2 -associated anathogene 3
  • large deletion, premature stop codon and frameshift mutation (PMID: 21353195))
  • CMD-associated BAG3 mutations impaired the Z-disc assembly and increased the sensitivities to stress-induced apoptosis (PMID: 21898660))