Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

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. Fibroblast...

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Hauptverfasser: Ghezzi, Daniele, Sevrioukova, Irina, Invernizzi, Federica, Lamperti, Costanza, Mora, Marina, D'Adamo, Pio, Novara, Francesca, Zuffardi, Orsetta, Uziel, Graziella, Zeviani, Massimo
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2010
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2850437/
https://ncbi.nlm.nih.gov/pubmed/20362274
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.03.002
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