A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.

@article{Vilain2012ANN,
  title={A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.},
  author={Catheline Vilain and C{\'e}line Rens and Alec Aeby and Daniel Bal{\'e}riaux and Patrick Van Bogaert and Gauthier Remiche and J{\"o}el Smet and Rudy N Van Coster and Marc Abramowicz and Isabelle Pirson},
  journal={Clinical genetics},
  year={2012},
  volume={82 3},
  pages={264-70}
}
Although deficiency of complex I of the mitochondrial respiratory chain is a frequent cause of encephalopathy in children, only a few mutations have been reported in each of its subunits. In the absence of families large enough for conclusive segregation analysis and of robust functional testing, it is difficult to unequivocally show the causality of the observed mutations and to delineate genotype-phenotype correlations, making additional observations necessary. We observed two consanguineous… CONTINUE READING

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