Beta-myosin heavy chain gene mutations in familial hypertrophic cardiomyopathy: the usual suspect?

@article{McNally2002BetamyosinHC,
  title={Beta-myosin heavy chain gene mutations in familial hypertrophic cardiomyopathy: the usual suspect?},
  author={E. M. McNally},
  journal={Circulation research},
  year={2002},
  volume={90 3},
  pages={246-7}
}
Familial hypertrophic cardiomyopathy (FHC) is a genetic disorder arising from mutations in sarcomeric protein genes. Human genetic studies have implicated at least 9 different genes in FHC, emphasizing the enormous genetic and allelic heterogeneity associated with FHC.1 -Myosin heavy chain ( MyHC, MYH7) is the most commonly mutated gene in FHC, and at least 60 different MYH7 gene mutations have been described in human FHC subjects.2 The vast majority of these are single base pair mutations that… CONTINUE READING

References

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Mutations of the light meromyosin domain of -myosin heavy chain rod in hypertrophic cardiomyopathy

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