LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

doi:10.1093/brain/awv291

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Article

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

Brain : a journal of neurology - 1 Dec 2015

Oláhová Monika, Hardy Steven A, Hall Julie, Yarham John W, Haack Tobias B, Wilson William C, Alston Charlotte L, He Langping, Aznauryan Erik, Brown Ruth M, Brown Garry K, Morris Andrew A M, Mundy Helen, Broomfield Alex, Barbosa Ines A, Simpson Michael A, Deshpande Charu, Moeslinger Dorothea, Koch Johannes, Stettner Georg M, Bonnen Penelope E, Prokisch Holger, Lightowlers Robert N, McFarland Robert, Chrzanowska-Lightowlers Zofia M A, Taylor Robert W

Abstract excerpt

Mitochondrial Complex IV [cytochrome c oxidase (COX)] deficiency is one of the most common respiratory chain defects in humans. The clinical phenotypes associated with COX deficiency include liver disease, cardiomyopathy and Leigh syndrome, a neurodegenerative disorder characterized by bilateral high signal lesions in the brainstem and basal ganglia. COX deficiency can result from mutations affecting many...

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PMID: 26510951
DOI: 10.1093/brain/awv291
PMCID: PMC4655343

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