Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes

@article{Ware2009InfantileCC,
  title={Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes},
  author={Stephanie M. Ware and Nahed El-Hassan and Stephen G. Kahler and Q Zhang and Y.-W. and Erin M. Miller and Beatrix Wong and Robert L. Spicer and William J. Craigen and Beth A. Kozel and Dorothy K. Grange and Lee-Jun C. Wong},
  journal={Journal of Medical Genetics},
  year={2009},
  volume={46},
  pages={308 - 314}
}
Background: Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. Methods: This study aimed to identify the mutation present in four unrelated patients who presented as infants with isolated hypertrophic cardiomyopathy. Results: In all four, a novel mitochondrial m.8528T→C mutation was identified. This results in a change of the initiation codon in ATPase 6 to threonine and a concurrent change from a highly conserved hydrophobic amino acid… 
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