Two siblings with cytochromec oxidase deficiency
Copyright policy )Two siblings with cytochromec oxidase deficiency
Le deficit en cytochrome c oxydase est une anomalie rare du systeme de transport mitochondrial. Rappel de 4 cas dans la litterature pour lesquels le deficit est localise aux muscles du squelette. Dans l'article on decrit 2 cas ou le deficit est mis en evidence a la fois sur la biopsie de muscles du squelette, mais aussi au niveau du cerveau et sur culture de fibroblastes cutanes. Cette etude illustre un defaut genetique en cytochrome c oxydase et suggere que ce defaut est une cause d'encephalomyelopathie de Leigh
- Tohoku University Japan
Male, Liver, Central Nervous System Diseases, Child, Preschool, Muscles, Brain, Cytochrome-c Oxidase Deficiency, Humans, Infant, Fibroblasts
Male, Liver, Central Nervous System Diseases, Child, Preschool, Muscles, Brain, Cytochrome-c Oxidase Deficiency, Humans, Infant, Fibroblasts
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