A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy

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Population

Patients with familial hypertrophic cardiomyopathy

Authors

Discussion

May warrant inclusion in hypertrophic cardiomyopathy genetic panels; leaves open prospective validation of pathogenicity and penetrance.

Population

Patients with familial hypertrophic cardiomyopathy

Outcome

Identification of a new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene

Identifies a novel missense mutation (Arg719Gln) in the β-cardiac heavy chain myosin gene associated with familial hypertrophic cardiomyopathy.

Consevage et al. (1994) studied this question.

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