Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

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 i...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Group 2009
Gaiak:
Original Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2921275/
https://ncbi.nlm.nih.gov/pubmed/19542079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.067553
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