Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy

@article{Smeitink1989FatalNC,
  title={Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy},
  author={Jan A M Smeitink and Rob C. A. Sengers and J M Frans Trijbels and Wim Ruitenbeek and Otto Dani{\"e}ls and Ad M. Stadhouders and M. J. H. Kock-Jansen},
  journal={European Journal of Pediatrics},
  year={1989},
  volume={148},
  pages={656-659}
}
Three patients suffering from the neonatal form of a syndrome characterized by congenital cataract, hypertrophic cardiomyopathy, and mitochondrial myopathy are described. The patients died at 7, 10 and 18 days, respectively from cardiorespiratory failure. Mitochondrial abnormalities were observed in the heart and skeletal muscle. Despite the presence of a severe lactic acidaemia pointing to a disturbed pyruvate oxidation rate in vivo, a normal pyruvate oxidation rate was demonstrated in… CONTINUE READING
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