Isolated cytochrome c oxidase deficiency as a cause of MELAS

Background:MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is one of the more common mitochondrial encephalomyopathies. About 80% of MELAS cases are caused by transition 3243A→G in the mitochondrial tRNALeu(UUR) gene (MT-TL1). Other mutations in MT-TL1, other...

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Veröffentlicht in:	Journal of medical genetics 2008-02, Vol.45 (2), p.117-121
Hauptverfasser:	Rossmanith, W, Freilinger, M, Roka, J, Raffelsberger, T, Moser-Thier, K, Prayer, D, Bernert, G, Bittner, R E
Format:	Artikel
Sprache:	eng
Schlagworte:	Acidosis Adult Amino Acid Sequence Base Sequence Biological and medical sciences Biopsy Cytochrome Cytochrome-c Oxidase Deficiency - complications Cytochrome-c Oxidase Deficiency - enzymology Cytochrome-c Oxidase Deficiency - genetics Dehydrogenases DNA, Mitochondrial - genetics Electron Transport Complex IV - genetics Electrons Enzymes Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Humans Male Medical genetics Medical sciences MELAS Syndrome - enzymology MELAS Syndrome - etiology MELAS Syndrome - genetics MELAS Syndrome - pathology Mitochondrial DNA Molecular and cellular biology Molecular Sequence Data Muscles - enzymology Mutation RNA, Messenger - genetics RNA, Messenger - metabolism Sequence Deletion Stroke Transmission electron microscopy
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