Article
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
American journal of human genetics - 6 Feb 2014
Lim Sze Chern, Smith Katherine R, Stroud David A, Compton Alison G, Tucker Elena J, Dasvarma Ayan, Gandolfo Luke C, Marum Justine E, McKenzie Matthew, Peters Heidi L, Mowat David, Procopis Peter G, Wilcken Bridget, Christodoulou John, Brown Garry K, Ryan Michael T, Bahlo Melanie, Thorburn David R
Abstract excerpt
Leigh syndrome (LS) is a severe neurodegenerative disorder with characteristic bilateral lesions, typically in the brainstem and basal ganglia. It usually presents in infancy and is genetically heterogeneous, but most individuals with mitochondrial complex IV (or cytochrome c oxidase) deficiency have mutations in the biogenesis factor SURF1. We studied eight complex IV-deficient LS individuals from six families...
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