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GENATLAS PHENOTYPE

last update : 06-02-2019

Symbol	BTHS2
Location	18q12.1
Name	noncompaction of left ventricular myocardium with congenital heart defects
Corresponding gene	DTNA
Main clinical features	associated with dilated cardiomyopathy Barth syndrome, in a japanese family
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
Type	disease

Gene product

Name	alpha dystrobrevin,missense mutation (P121L)

Remark(s)