Article
Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.
Circulation - 15 Dec 1996
Forissier J F, Carrier L, Farza H, Bonne G, Bercovici J, Richard P, Hainque B, Townsend P J, Yacoub M H, Fauré S, Dubourg O, Millaire A, Hagège A A, Desnos M, Komajda M, Schwartz K
Abstract excerpt
BACKGROUND: Familial hypertrophic cardiomyopathy is a phenotypically and genetically heterogeneous disease. In some families, the disease is linked to the CMH2 locus on chromosome 1q3, in which the cardiac troponin T gene (TNNT2) has been identified as the disease gene. The mutations found in this gene appear to be associated with incomplete penetrance and poor prognosis. Because mutational hot spots offer unique...
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