Mitochondrial myopathy diagnosis.
Oxidative phosphorylation (OXPHOS) accounts for approximately 95% of the adenosine triphosphate (ATP) produced by the cell. The central nervous system, peripheral nervous system, cardiac muscle, skeletal muscle, and smooth muscle are highly susceptible to dysfunction of this complex enzyme system. Although most OXPHOS diseases are multisystem disorders, the neuromuscular manifestations are often prominent and play an important role in patient diagnosis. To assist the neurologist in evaluating these complex patients, this article focuses on selected samples of OXPHOS diseases with identifiable neuromuscular abnormalities and presents an evaluation algorithm to facilitate patient diagnosis.
Shoffner
J M
JM
Molecular Medicine Laboratory, Children's Healthcare of Atlanta, GA 30342, USA. jshoffner@srcmc.org
D000465:Algorithms; D004272:DNA, Mitochondrial / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D010085:Oxidative Phosphorylation; D010641:Phenotype
D004272:DNA, Mitochondrial