Article
5q14.3 deletion manifesting as mitochondrial disease and autism: case report.
Journal of child neurology - 1 Oct 2010
Ezugha Herbert, Goldenthal Michael, Valencia Ignacio, Anderson Carol E, Legido Agustin, Marks Harold
Abstract excerpt
Mitochondrial disorders are usually associated with defects of 1 or more of the 5 complexes (I to V) of the electron transport chain, or respiratory chain. Complex I and IV are the 2 most frequent abnormalities of the electron transport chain in humans. The authors report the case of a 12-year-ol...
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