SURF1 deficiency: a multi-centre natural history study

SURF1 deficiency, a monogenic mitochondrial disorder, is the most frequent cause of cytochrome c oxidase (COX) deficient Leigh syndrome (LS). We report the first natural history study of SURF1 deficiency. We conducted a multi-centre case notes review of 44 SURF1-deficient patients from ten different...

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Veröffentlicht in:	Orphanet journal of rare diseases 2013-07, Vol.8 (1), p.96-96, Article 96
Hauptverfasser:	Wedatilake, Yehani, Brown, Ruth M, McFarland, Robert, Yaplito-Lee, Joy, Morris, Andrew A M, Champion, Mike, Jardine, Phillip E, Clarke, Antonia, Thorburn, David R, Taylor, Robert W, Land, John M, Forrest, Katharine, Dobbie, Angus, Simmons, Louise, Aasheim, Erlend T, Ketteridge, David, Hanrahan, Donncha, Chakrapani, Anupam, Brown, Garry K, Rahman, Shamima
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Analysis Care and treatment Child Child, Preschool Children & youth Electron Transport Complex IV - metabolism Female Genetic aspects Glutamine Hospitals Humans Infant Infant, Newborn Leigh disease Leigh Disease - genetics Leigh Disease - metabolism Leigh Disease - pathology Male Medical research Membrane Proteins - deficiency Mitochondrial diseases Mitochondrial Proteins - deficiency Mortality Mutation Phenotype Rare diseases Studies Young Adult
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