Article
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.
Journal of medical genetics - 1 Aug 2010
Gerards M, Sluiter W, van den Bosch B J C, de Wit L E A, Calis C M H, Frentzen M, Akbari H, Schoonderwoerd K, Scholte H R, Jongbloed R J, Hendrickx A T M, de Coo I F M, Smeets H J M
Abstract excerpt
BACKGROUND: Leigh syndrome is an early onset, progressive, neurodegenerative disorder with developmental and motor skills regression. Characteristic magnetic resonance imaging abnormalities consist of focal bilateral lesions in the basal ganglia and/or the brainstem. The main cause is a deficiency in oxidative phosphorylation due to mutations in an mtDNA or nuclear oxidative phosphorylation gene. METHODS AND...
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