Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome

Leigh syndrome (LS) is a rare progressive neurodegenerative disorder occurring in infancy. The most common clinical signs reported in LS are growth retardation, optic atrophy, ataxia, psychomotor retardation, dystonia, hypotonia, seizures and respiratory disorders. The paper reported a manifestation...

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Veröffentlicht in:	Biochemical and biophysical research communications 2018-03, Vol.497 (4), p.1043-1048
Hauptverfasser:	Maalej, Marwa, Kammoun, Thouraya, Alila-Fersi, Olfa, Kharrat, Marwa, Ammar, Marwa, Felhi, Rahma, Mkaouar-Rebai, Emna, Keskes, Leila, Hachicha, Mongia, Fakhfakh, Faiza
Format:	Artikel
Sprache:	eng
Schlagworte:	Brain - diagnostic imaging Child Child, Preschool Computer Simulation Cytochrome C oxydase Cytochrome-c Oxidase Deficiency - enzymology DNA Mutational Analysis Electron Transport Complex IV - metabolism Humans Leigh Disease - genetics Leigh syndrome Magnetic Resonance Imaging Male Membrane Proteins - genetics Mitochondrial Proteins - genetics Mitochondrial Proton-Translocating ATPases - genetics Mutation RNA Splicing splicing defects SURF1 gene Tunisia
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