The diagnosis of mitochondrial muscle disease.
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.
Taylor
Robert W
RW
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.
Schaefer
Andrew M
AM
Barron
Martin J
MJ
McFarland
Robert
R
Turnbull
Douglass M
DM
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
D004272:DNA, Mitochondrial