title: Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach.
abstract: The clinical identification of patients with defects in the mitochondrial respiratory chain is almost impossible. We describe screening tests that should be performed in order to select those patients in whom a skeletal muscle biopsy should be carried out for more specific biochemical assays. The importance of performing in vivo function tests is stressed. The biochemical diagnosis in disorders of the respiratory chain is presented and the application of immunological methods discussed.
authors.affiliation: Department of Paediatrics, University of Nijmegen, The Netherlands.
authors.forename: J M
authors.initials: JM
authors.lastname: Trijbels
authors.forename: R C
authors.initials: RC
authors.lastname: Sengers
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
authors.forename: J C
authors.initials: JC
authors.lastname: Fischer
authors.forename: J A
authors.initials: JA
authors.lastname: Bakkeren
authors.forename: A J
authors.initials: AJ
authors.lastname: Janssen
mesh_terms: D001706:Biopsy; D001826:Body Fluids / Q000032:analysis; D004579:Electron Transport; D006801:Humans; D008931:Mitochondria, Muscle / Q000378:metabolism*; D009132:Muscles / Q000032:analysis; D009135:Muscular Diseases / Q000175:diagnosis / Q000378:metabolism*