Article
Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.
Heart (British Cardiac Society) - 1 Oct 2008
Zahka K, Kalidas K, Simpson M A, Cross H, Keller B B, Galambos C, Gurtz K, Patton M A, Crosby A H
Abstract excerpt
BACKGROUND: Familial hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death among young and apparently healthy people. Autosomal dominant mutations within genes encoding sarcomeric proteins have been identified. An autosomal recessive form of HCM has been discovered in a group of Amish children that is associated with poor prognosis and death within the first year of life. Affected patients...
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