Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis()

Complex III deficiency due to a MT-CYB mutation has been reported in patients with myopathy. Here, we describe a 15-year-old boy who presented with metabolic acidosis, ketotic hypoglycemia and carnitine deficiency. Electron transport chain analysis and mitochondrial DNA sequencing on muscle tissue l...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Mori, Mari, Goldstein, Jennifer, Young, Sarah P., Bossen, Edward H., Shoffner, John, Koeberl, Dwight D.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4750615/
https://ncbi.nlm.nih.gov/pubmed/26937408
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.06.001
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