Why the study?
Does the precise definition of disease-causing missense mutations in the beta cardiac myosin heavy-chain gene provide prognostic information regarding survival in families with hypertrophic cardiomyopathy?
Does the precise definition of disease-causing missense mutations in the beta cardiac myosin heavy-chain gene provide prognostic information regarding survival in families with hypertrophic cardiomyopathy?
Identifying specific missense mutations in the beta cardiac myosin heavy-chain gene provides important prognostic information regarding survival in familial hypertrophic cardiomyopathy.
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May inform genetic counseling in familial hypertrophic cardiomyopathy; leaves open prospective validation before guiding management.
Different missense mutations in the beta cardiac myosin heavy-chain gene can be identified in approximately 50 percent of families with hypertrophic cardiomyopathy. In those families, a definite genetic diagnosis can be made in all members. Since the location of a mutation or its DNA-sequence alteration (or both) appears to influence survival, we suggest that the precise definition of the disease-causing mutation can provide important prognostic information about affected members.
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Watkins et al. (1992) studied this question.
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