Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.

@article{Fananapazir1993MissenseMI,
  title={Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.},
  author={Lameh Fananapazir and Marinos C. Dalakas and Francis Cyran and Gabriel M. Cohn and Neal D. Epstein},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1993},
  volume={90 9},
  pages={3993-7}
}
Hypertrophic cardiomyopathy (HCM) is an important cause of sudden death in apparently healthy young individuals. In less than half of kindreds with HCM, the disease is linked to the beta-myosin heavy-chain gene locus (MYH7). We have recently described two missense MYH7 gene mutations [Arg-403 to Gln (R403Q) and Leu-908 to Val (L908V)] and found that the mutant message is present in skeletal muscle soleus) and that the mutant beta-myosin obtained from soleus muscle has abnormal in vitro motility… CONTINUE READING