Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

@article{Ghezzi2010SevereXM,
  title={Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.},
  author={Daniele Ghezzi and Irina F Sevrioukova and Federica Invernizzi and Costanza Lamperti and Marina Mora and Pio d'Adamo and Francesca Novara and Orsetta Zuffardi and Graziella Uziel and Massimo Zeviani},
  journal={American journal of human genetics},
  year={2010},
  volume={86 4},
  pages={639-49}
}
We investigated two male infant patients who were given a diagnosis of progressive mitochondrial encephalomyopathy on the basis of clinical, biochemical, and morphological features. These patients were born from monozygotic twin sisters and unrelated fathers, suggesting an X-linked trait. Fibroblasts from both showed reduction of respiratory chain (RC) cIII and cIV, but not of cI activities. We found a disease-segregating mutation in the X-linked AIFM1 gene, encoding the Apoptosis-Inducing… CONTINUE READING
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