Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

@article{Thierfelder1994AlphatropomyosinAC,
  title={Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.},
  author={Ludwig Thierfelder and Hugh C Watkins and Calum A. MacRae and Ricardo Lamas and William J. McKenna and Hans Peter Vosberg and Jonathan G Seidman and Christine E Seidman},
  journal={Cell},
  year={1994},
  volume={77 5},
  pages={701-12}
}
We demonstrate that missense mutations (Asp175Asn; Glu180Gly) in the alpha-tropomyosin gene cause familial hypertrophic cardiomyopathy (FHC) linked to chromosome 15q2. These findings implicated components of the troponin complex as candidate genes at other FHC loci, particularly cardiac troponin T, which was mapped in this study to chromosome 1q. Missense mutations (Ile79Asn; Arg92Gln) and a mutation in the splice donor sequence of intron 15 of the cardiac troponin T gene are also shown to… CONTINUE READING
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