Respiratory chain deficiency in nonmitochondrial disease

OBJECTIVE: In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochondrial disease. METHODS: The reported patients were identified from a cohort of 60 patients in whom RC enzyme def...

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Bibliografiske detaljer
Udgivet i:Neurol Genet
Main Authors: Pyle, Angela, Nightingale, Helen J., Griffin, Helen, Abicht, Angela, Kirschner, Janbernd, Baric, Ivo, Cuk, Mario, Douroudis, Konstantinos, Feder, Lea, Kratz, Markus, Czermin, Birgit, Kleinle, Stephanie, Santibanez-Koref, Mauro, Karcagi, Veronika, Holinski-Feder, Elke, Chinnery, Patrick F., Horvath, Rita
Format: Artigo
Sprog:Inglês
Udgivet: Wolters Kluwer 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4821083/
https://ncbi.nlm.nih.gov/pubmed/27066545
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000006
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