Approche diagnostique des maladies mitochondriales à présentation neurologique

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.