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Mutations in the SURF1 gene are the most frequent causes of Leigh disease with cytochrome c oxidase deficiency. We describe four children with novel SURF1 mutations and unusual features: three had prominent renal symptoms and one had ragged red…

Leigh syndrome (LS) is the clinical prototype of a genetically-determined mitochondrial encephalopathy. Twenty-two of 34 patients with LS had evidence of a movement disorder (MD). Dystonia, the most common MD, was present in 19 cases, rigidity in 4,…