Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene.

@article{Kokado2000ClinicalFO,
  title={Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene.},
  author={Hiromasa Kokado and Masahiko Shimizu and Hiroyuki Yoshio and Hidekazu Ino and Kazuyasu Okeie and Yuko Emoto and Tomohiro Matsuyama and Masahiho Yamaguchi and Takenori Yasuda and Noboru Fujino and Hiroshi Ito and Hiroshi Mabuchi},
  journal={Circulation},
  year={2000},
  volume={102 6},
  pages={663-9}
}
BACKGROUND Mutations that cause hypertrophic cardiomyopathy (HCM) have been identified in 9 genes that code proteins in the sarcomere. Previous reports have demonstrated that cardiac troponin I (cTnI) gene mutations may account for familial HCM; however, the clinical characteristics and prognosis of patients with HCM caused by cTnI gene mutations are not known. METHODS AND RESULTS We analyzed cTnI gene mutations in 130 unrelated probands with HCM and their families to clarify the genotype… CONTINUE READING
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Defective inhibitory properties of human cardiac troponin I mutants that cause familial hypertrophic cardiomyopathy ( FHC )

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