[Diagnostic investigations of mitochondrial diseases with neurological symptoms].
Mitochondrial respiratory chain abnormalities are a cause of neuromuscular diseases. They present with very diverse clinical presentations,involving either the central nervous system, the peripheral nervous system, or skeletal muscle, and may be due to mutations either in mitochondrial or nuclear genome. The aim of this review is to familiarise the clinician with these diseases, to evoke main syndromes, and to give guidelines for their diagnostic investigation.
Auré
K
K
Institut National de la Santé et de la Recherche Médicale, U582-Université Pierre et Marie Curie, AP HP, CHU Pitié-Salpêtrière, Institut de Myologie, Paris, France.
Lombès
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D000465:Algorithms; D001706:Biopsy; D004272:DNA, Mitochondrial / Q000235:genetics; D019468:Disease Management; D004579:Electron Transport; D005260:Female; D050259:Genes, Mitochondrial; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D028361:Mitochondrial Diseases / Q000145:classification / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000473:pathology / Q000628:therapy; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D009422:Nervous System Diseases / Q000209:etiology* / Q000628:therapy; D010085:Oxidative Phosphorylation; D017384:Sequence Deletion; D013577:Syndrome
D004272:DNA, Mitochondrial