A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.

@article{Lebon2007ANM,
  title={A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.},
  author={Sophie Lebon and Diana Rodr{\'i}guez and Delphine Bridoux and Amal Zerrad and Agn{\`e}s R{\"o}tig and Arnold Munnich and Alain Legrand and Abdelhamid Slama},
  journal={Molecular genetics and metabolism},
  year={2007},
  volume={90 4},
  pages={379-82}
}
Defects in NADH:ubiquinone oxidoreductase, the complex I of the mitochondrial respiratory chain represents the most frequent cause of mitochondrial diseases and is associated with a wide clinical spectrum varying from severe lactic acidosis in infants to muscle weakness in adults. Here, we report a patient with Leigh syndrome (LS), born to consanguineous parents, with severe complex I defect and a novel mutation in the NDUFS7 gene subunit. The homozygous mutation at nucleotide (nt) 434 G>A… CONTINUE READING
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