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- W45957020 abstract "Mitochondrial encephalopathies represent a heterogeneous group of various neurological syndromes caused by defects in mitochondrial metabolism. All clinical syndromes can be subdivided by type of biochemical defect into 3 subgroups: defective oxidation, defects in pyruvate metabolism and various defects in the respiratory chain. We present a 12-year-old girl admitted for evaluation of progressive ptosis over a period of 3 years, diagnosed as having the rare mitochondrial encephalopathy, Kearns-Sayre syndrome." @default.
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- W45957020 date "2000-01-16" @default.
- W45957020 modified "2023-09-23" @default.
- W45957020 title "[Progressive ptosis in children as a presenting sign of Kearns-Sayre syndrome]." @default.
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