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- Title
Cytochrome c Oxidase Partial Deficiency-Associated Leigh Disease Presenting as an Extrapyramidal...
- Authors
Cacic, Melita; Wilichowski, Ekkehard; Mejaski-Bosnjak, Vlatka; Fumic, Ksenija; Lugic, Lucija; Marusic, Branka; Marina, Dellia; Hanefeld, Folker
- Abstract
Describes the clinical, biochemical, neuroimaging and molecular studies of a 19-year-old boy with early onset of Leigh disease manifesting as severe extrapyramidal disorder with generalized dystonia and choreoathetosis owing to a partial cytochrome c oxidase deficiency. Pathologic changes in the Leigh disease; Variations in the clinical presentation and course of the disease.
- Subjects
EXTRAPYRAMIDAL disorders; DYSTONIA; NEURODEGENERATION; CYTOCHROME oxidase
- Publication
Journal of Child Neurology, 2001, Vol 16, Issue 8, p616
- ISSN
0883-0738
- Publication type
Article