1. Mitochondrial encephalomyopathies: a group of neuromuscular disorders with defects Leigh syndrome in our patient. Recently, a patient with a childhood encephalomyopathy with cytochrome c oxidase deficiency in muscle and platelets, resembling our patient, was in oxidative metabolism;Shapira, Y.; Harel, S.; Russell, A.;Isr J Med Sci,1977
2. Defects in citric acid cycle and the electron transport chain in progressive poliodystrophy;Gabreels, F.J.M.; Prick, M.J.J.; Trijbels, J.M.F.;Acta Neurol Scand,1984
3. Subacute reported by Angelini et al.24 This patient, an 8 year old boy, had muscle wasting with proximal weakness, ataxia and mental impairment, but no pyramidal signs. There was parental consanguinity in this case, necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver;PMM, Van Erven; FJM, Gabreels; W, Ruitenbeek;Acta Neurol Scand,1985
4. Mitochondrial pointing to an autosomal recessive mode of inheritance. In other patients with Leigh syndrome, the deficiency of cytochrome c oxidase was present in myopathies: clinical, morphological and biochemical aspects;Sengers, R.C.A.; Stadhouders, A.M.; Trijbels, J.M.F.;Eur J Pediatr,1984
5. Myoclonus epilepsy associated with raggged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? Lightand skeletal muscle, heart muscle, brain, kidney, liver and cultured fibroblasts.48 Normal enzyme activities have been reported in liver tissue,26 and in liver tissue and cultured fibroblasts48 of Leigh patients with a cytoelectronmicroscopic studies of 2 cases and a review of the literature;Fukuhara, N.; Tohiguchi, S.; Skirakawa, K.; Tsubahi, T.;J Neurol Sci,1980