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GENATLAS PHENOTYPE

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

Remark(s)

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))