Pezeshkpour G, Krarup C, Buchthal F, DiMauro S, Bresolin N, McBurney J
J Neurol Sci. 1987 Feb;77(2-3):285-304. doi: 10.1016/0022-510x(87)90129-8.
Clinical, electrophysiological, histological and biochemical studies of two patients with mitochondrial disease revealed a moderately advanced axonal neuropathy with mitochondrial paracrystalline inclusions in Schwann cells, fibroblasts and muscle fibers. In addition there was a myopathy, and the activity of muscle cytochrome c oxidase was diminished by more than 50%. There were electrophysiological signs of myopathy, neuropathy and failure of excitation-contraction coupling in both patients. The partial enzyme deficiency raises some questions as to its pathogenetic role in these neuromyopathies.
