A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

We report on a 5-year-old boy with clinical and neuroradiological evidence of Leigh syndrome and peripheral neuropathy. Skeletal muscle biopsy showed decreased cytochrome c oxidase stain. Ultrastructurally, the nerve biopsy s howed a defect of myelination. Biochemical analyses of muscle homogenate sh owed cytochrome c oxidase deficiency (15% residual activity). SURF1 gene an alysis identified a never homozygous nonsense mutation which predicts a tru ncated surf1 protein. (C) 2000 Elsevier Science B.V. All rights reserved.