Mitochondrial myopathy with peripheral neuropathy

This paper reported mitochondrial myopathy with peripheral neuropathy of 2 cases. Both patients were males. Age: 22, 32.

Methods: 11, 14 years respectively. They showed recurrent paralysis and asthenia of limbs. Case 1 was motor sensory neuropathy, whose EMG revealed neurogenic injury. Case 2 involved only the lower limbs, whose lactic acid level was increased. In both patients, muscle biopsy showed Ragged Red fibers and abnormal mitochondria. Sural nerve biopsy revealed moderate reduction in the number of mylinated fibers and chronic axonal degeneration without regeneration cluster and hypertrophic neuropathy. Electron microscopic examination showed the increase of Schwann cells and mitochondria, and abnormal mitochondria being less marded in Case 2. Mitochondrial myopathy with peripheral neuropathy and its pathogenesis were discussed.