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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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha: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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