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

doi:10.1136/jmg.35.3.253

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Article

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

Journal of medical genetics - 1 Mar 1998

Moolman-Smook J C, Mayosi B, Brink P, Corfield V A

Abstract excerpt

Hypertrophic cardiomyopathy is a primary cardiac disease, characterised by idiopathic myocardial hypertrophy, and is caused by defects in sarcomeric 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...

Topics

Adult
Cardiomyopathy, Hypertrophic
Carrier Proteins
Genetic Testing
Humans
Male
Mutation
Myosins
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
South Africa

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