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Familial deficiency in complex II of respiratory chain presenting as leukodystrophy

✍ Scribed by Goutières, Françoise; Bourgeois, Marie; Aicardi, Jean; Rustin, Pierre; Munnich, Arnold

Book ID
121895471
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
254 KB
Volume
8
Category
Article
ISSN
0887-8994

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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