PMID: 9541115Apr 16, 1998Paper

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

Journal of Medical Genetics
J C Moolman-SmookV A Corfield

Abstract

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 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 in MyBP-C which does not affect the myosin or titin binding domains.

References

Apr 18, 1996·The New England Journal of Medicine·R R Liberthson
Feb 1, 1996·Current Opinion in Cell Biology·K L Vikstrom, L A Leinwand

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Citations

Jul 9, 1999·Reviews of Physiology, Biochemistry and Pharmacology·P M BennettM Gautel
Oct 14, 1998·The Journal of Clinical Investigation·Q YangJ Robbins
Jul 28, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hanan E ShamseldinFowzan S Alkuraya
May 29, 2004·Circulation Research·Emily FlashmanHugh Watkins
Sep 19, 1998·Circulation Research·G BonneK Schwartz
Dec 23, 2004·The American Journal of Hospice & Palliative Care·Mellar P Davis

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