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Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with leigh syndrome

✍ Scribed by Bourgeois, Marie; Goutieres, Françoise; Chretien, Dominique; Rustin, Pierre; Munnich, Arnold; Aicardi, Jean


Book ID
121769005
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
950 KB
Volume
14
Category
Article
ISSN
0387-7604

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Defects of the mitochondrial respiratoiy chain are increasingly being recognized as an important cause of neurological disease in humans. In many of these patients, the biochemical defect results from an abnormality of the mitochondrial genome. Respiratory chain defects involving complex 11, which i