A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome

Mutations in the mitochondrial DNA cytochrome b gene (MTCYB) have been commonly associated with isolated mitochondrial myopathy and exercise intolerance, rarely with multisystem disorders, and only once with a parkinsonism/mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (ME...

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Veröffentlicht in:	Journal of child neurology 2013-02, Vol.28 (2), p.236-242
Hauptverfasser:	Emmanuele, Valentina, Sotiriou, Evangelia, Rios, Purificación Gutierrez, Ganesh, Jaya, Ichord, Rebecca, Foley, A. Reghan, Akman, H. Orhan, DiMauro, Salvatore
Format:	Artikel
Sprache:	eng
Schlagworte:	Acidosis, Lactic - complications Child Cytochromes b - genetics Female Humans Magnetic Resonance Imaging Mitochondrial Encephalomyopathies - complications Mitochondrial Encephalomyopathies - diagnosis Mitochondrial Encephalomyopathies - genetics Mutation - genetics Parietal Lobe - pathology Stroke - complications
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