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1. Mitokondrial kompleks I eksikliği: Bir vaka takdimi.

Author

Kılıç, Mustafa, Kalkanoğlu Sivri, Hatice Serap, Dursun, Ali, Tokatlı, Ayşegül, and Coskun, Turgay

Abstract

Mitochondrial complex I deficiency is the most common defect of the oxidative phosphorylation system. It is clinically heterogeneous, leading to a broad variety of clinical manifestations ranging from neonatal death to late-onset neurodegenerative disorders. We report a patient with Leigh syndrome who showed a complex I deficiency in cultured fibroblasts. [ABSTRACT FROM AUTHOR]

Published
2015

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