Article
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.
Circulation - 30 Oct 2001
Li D, Czernuszewicz G Z, Gonzalez O, Tapscott T, Karibe A, Durand J B, Brugada R, Hill R, Gregoritch J M, Anderson J L, Quiñones M, Bachinski L L, Roberts R
Abstract excerpt
BACKGROUND: Familial dilated cardiomyopathy (FDCM) and hypertrophic cardiomyopathy (FHCM) are the 2 most common forms of primary cardiac muscle diseases. Studies indicate that mutations in sarcomeric proteins are responsible for FHCM and suggest that mutations in cytoskeletal proteins cause FDCM. Evidence is evolving, however, that such conclusions are premature. METHODS AND RESULTS: A novel missense mutation in...
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