Mitochondrial myopathy diagnosis

Oxidative phosphorylation (OXPHOS) accounts for approximately 95% of the ad enosine triphosphate (ATP) produced by the cell. The central nervous system , peripheral nervous system, cardiac muscle, skeletal muscle, and smooth mu scle are highly susceptible to dysfunction of this complex enzyme system. A lthough most OXPHOS diseases are multisystem disorders, the neuromuscular m anifestations are often prominent and play an important role in patient dia gnosis. To assist the neurologist in evaluating these complex patients, thi s article focuses on selected samples of OXPHOS diseases with identifiable neuromuscular abnormalities and presents an evaluation algorithm to facilit ate patient diagnosis.