Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.

@article{Loeffen2001MutationsIT,
  title={Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.},
  author={Jan L. C. M. Loeffen and Orly Elpeleg and Jan A M Smeitink and R. Smeets and Sylvia Stoeckler-Ipsiroglu and Hanna Mandel and Rob C. A. Sengers and Frans J. M. Trijbels and Lambert P. W. J. van den Heuvel},
  journal={Annals of neurology},
  year={2001},
  volume={49 2},
  pages={195-201}
}
Human complex I is built up and regulated by genes encoded by the mitochondrial DNA (mtDNA) as well as the nuclear DNA (nDNA). In recent years, attention mainly focused on the relation between complex I deficiency and mtDNA mutations. However, a high percentage of consanguinity and an autosomal-recessive mode of inheritance observed within our patient group as well as the absence of common mtDNA mutations make a nuclear genetic cause likely. The NDUFS2 protein is part of complex I of many pro… CONTINUE READING

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