Mitochondrial myopathy

Diseases caused by energy deficiency due to defective oxidative phosphorylation in cell mitochondria are called mitochondrial diseases. When skeletal muscle is affected, with or without central nervous system involvement, it is called mitochondrial myopathy. The clinical manifestations of this disease are diverse, mainly presenting as limb muscle weakness. More than half of cases are characterized by skeletal muscle fatigue intolerance, and it is mostly a hereditary disease.