Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood.
until further notice
SourceJournal of Inherited Metabolic Disease, 27, 2, (2004), pp. 281-3
Article / Letter to editor
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Paediatrics - OUD tm 2017
Journal of Inherited Metabolic Disease
SubjectUMCN 5.1: Genetic defects of metabolism; UMCN 5.3: Cellular energy metabolism
We report two siblings with a mitochondrial respiratory chain defect who presented with progressive bulbar paralysis of childhood (Fazio-Londe disease). Mitochondrial respiratory chain defects should be considered in differential diagnosis of this rare clinical entity.
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- Faculty of Medical Sciences 
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