Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.

@article{Hayashi2004IdentificationAF,
  title={Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.},
  author={Takeharu Hayashi and Takuro Arimura and Kazuo Ueda and Hiroki Shibata and Shigeru Hohda and Megumi Takahashi and Hisae Hori and Yoshinori Koga and Naoki Oka and Tsutomu Imaizumi and Michio Yasunami and Akinori Kimura},
  journal={Biochemical and biophysical research communications},
  year={2004},
  volume={313 1},
  pages={178-84}
}
Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are caused by mutations in 14 and 15 different disease genes, respectively, in a part of the patients and the disease genes for cardiomyopathy overlap in part with that for limb-girdle muscular dystrophy (LGMD). In this study, we examined an LGMD gene encoding caveolin-3 (CAV3) for mutation in the patients with HCM or DCM. A Thr63Ser mutation was identified in a sibling case of HCM. Because the mutation was found at the residue… CONTINUE READING
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