Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy

@article{Zou2012MultipleGM,
  title={Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy},
  author={Yubao Zou and Jizheng Wang and Xuan Liu and Yilu Wang and Yi Yun Chen and Kai Sun and Shuo Gao and Channa Zhang and Zhimin Wang and Yin Zhang and Xinxing Feng and Ying Song and Yajie Wu and Hongju Zhang and Lei Jia and Hu Wang and Dong Wang and Chaowu Yan and Minjie Lu and Xianliang Zhou and Lei Song and Rutai Hui},
  journal={Molecular Biology Reports},
  year={2012},
  volume={40},
  pages={3969-3976}
}
Genotype-phenotype correlation of hypertrophic cardiomyopathy (HCM) has been challenging because of the genetic and clinical heterogeneity. To determine the mutation profile of Chinese patients with HCM and to correlate genotypes with phenotypes, we performed a systematic mutation screening of the eight most commonly mutated genes encoding sarcomere proteins in 200 unrelated Chinese adult patients using direct DNA sequencing. A total of 98 mutations were identified in 102 mutation carriers. The… CONTINUE READING

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