title: The diagnosis of mitochondrial muscle disease.
abstract: Mitochondrial respiratory chain abnormalities are an important cause of neuromuscular disease and may be due to defects of either the mitochondrial or nuclear genome. On account of the clinical and genetic heterogeneity exhibited by the mitochondrial myopathies, their investigation and diagnosis remains a challenge, requiring a combination of techniques including muscle histochemistry, biochemical assessment of respiratory chain function and molecular genetic studies. Here, we describe a step-by-step approach to the clinical and laboratory diagnosis of mitochondrial muscle disease, highlighting the many potential problems that can hinder reaching the correct diagnosis.
authors.affiliation: Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne NE2 4HH, UK.
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
authors.forename: Andrew M
authors.initials: AM
authors.lastname: Schaefer
authors.forename: Martin J
authors.initials: MJ
authors.lastname: Barron
authors.forename: Robert
authors.initials: R
authors.lastname: McFarland
authors.forename: Douglass M
authors.initials: DM
authors.lastname: Turnbull
mesh_terms: D004272:DNA, Mitochondrial; D006801:Humans; D008931:Mitochondria, Muscle / Q000473:pathology; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics; D008967:Molecular Biology / Q000379:methods; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial