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Article

A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16.

American journal of human genetics - 1 Feb 2001

Lee N, Daly M J, Delmonte T, Lander E S, Xu F, Hudson T J, Mitchell G A, Morin C C, Robinson B H, Rioux J D

Abstract excerpt

Leigh syndrome (LS) affects 1/40,000 newborn infants in the worldwide population and is characterized by the presence of developmental delay and lactic acidosis and by a mean life expectancy variously estimated at 3-5 years. Saguenay-Lac-Saint-Jean (SLSJ) cytochrome oxidase (COX) deficiency (LS French-Canadian type [LSFC] [MIM 220111]), an autosomal recessive form of congenital lactic acidosis, presents with...

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PMID: 11156535
DOI: 10.1086/318197
PMCID: PMC1235273

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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