Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

Thirty-four children with lactic acidosis and Leigh encephalopathy due to cytochrome C oxidase (COX) deficiency distributed in 28 families have recently been identified in northeastern Quebec, particularly in the Saguenay-Lac-Saint-Jean (SLSJ) region. The segregation analysis was consistent with an...

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Detalhes bibliográficos
Main Authors: Morin, C, Mitchell, G, Larochelle, J, Lambert, M, Ogier, H, Robinson, B H, De Braekeleer, M
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682365/
https://ncbi.nlm.nih.gov/pubmed/8392291
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