Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q(10) content

Coenzyme Q(10) (CoQ(10)) deficiency is associated to a variety of clinical phenotypes including neuromuscular and nephrotic disorders. We report two unrelated boys presenting encephalopathy, ataxia, and lactic acidosis, who died with necrotic lesions in different areas of brain. Levels of CoQ(10) an...

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Pubblicato in:Eur J Hum Genet
Autori principali: Asencio, Claudio, Rodríguez-Hernandez, María A, Briones, Paz, Montoya, Julio, Cortés, Ana, Emperador, Sonia, Gavilán, Angela, Ruiz-Pesini, Eduardo, Yubero, Dèlia, Montero, Raquel, Pineda, Mercedes, O'Callaghan, María M, Alcázar-Fabra, María, Salviati, Leonardo, Artuch, Rafael, Navas, Plácido
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4755364/
https://ncbi.nlm.nih.gov/pubmed/26014431
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.112
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