Identification of a new missense mutation in MyBP-C associated with hypertrophie cardiomyopathy

Moolman-Smook J.C. ; Mayosi B. ; Brink P. ; Corfield V.A. (1998)


Hypertrophie cardiomyopathy is a primary cardiac disease, characterised by idiopathic myocardial hypertrophy, and is caused by defects in s arc orner ic protein encoding genes. One of these genes is cardiac myosin binding protein C (MyBP-C), in which a number of splice site and duplication mutations causing HCM have been described. During mutation screening of a South African HCM population by PCR-SSCP, a missense mutation, Arg654His, was detected in one proband. Although the mutation was present in his three adult children, only the proband himself was markedly affected. This is the first report of a disease associated missense mutation hi MyBP-C which does not affect the myosin or titin binding domains.

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