Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.

@article{Martn2005LeighSA,
  title={Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.},
  author={Miguel Angel Mart{\'i}n and Alberto Bl{\'a}zquez and Luis Gonz{\'a}lez Guti{\'e}rrez-Solana and Daniel Fern{\'a}ndez-Moreira and Paz Briones and Antoni L. Andreu and Rafael Garesse and Yolanda Campos and J. Olier Arenas},
  journal={Archives of neurology},
  year={2005},
  volume={62 4},
  pages={659-61}
}
BACKGROUND Mutations in the nuclear-encoded subunits of complex I of the mitochondrial respiratory chain are a recognized cause of Leigh syndrome (LS). Recently, 6 mutations in the NDUFS1 gene were identified in 3 families. OBJECTIVE To describe a Spanish family with LS, complex I deficiency in muscle, and a novel mutation in the NDUFS1 gene. DESIGN Using molecular genetic approaches, we identified the underlying molecular defect in a patient with LS with a complex I defect. PATIENT The… CONTINUE READING

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