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Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

30 Sept 2005

Abstract excerpt

OBJECTIVE: To report the frequency of single and multiple gene mutations in an Australian cohort of patients with hypertrophic cardiomyopathy (HCM). METHODS: Genetic screening of seven HCM genes (beta-MHC, MyBP-C, cTnT, cTnI, ACTC, MYL2, and MYL3) was undertaken in 80 unrelated probands. Screening was by denaturing high performance liquid chromatography and direct DNA sequencing. Clinical data were collected on...

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PMID: 16199542
DOI: 10.1136/jmg.2005.033886

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