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Leigh Syndrome with COX Deficiency and SURF1 Gene Mutations: MR Imaging Findings
Andrea Rossi, Roberta Biancheri, Claudio Bruno, Maja Di Rocco, Angela Calvi, Alice Pessagno and Paolo Tortori-Donati
American Journal of Neuroradiology June 2003, 24 (6) 1188-1191;
Andrea Rossi
Roberta Biancheri
Claudio Bruno
Maja Di Rocco
Angela Calvi
Alice Pessagno

References
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- ↵Rahman S, Blok RB, Dahl HH, et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996;39:343–351
- ↵Tiranti V, Jaksch M, Hofmann S, et al. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 1999;46:161–166
- ↵Mashkevich G, Repetto B, Glerum DM, et al. SHT1, the yeast homolog of the mammalian SURF1 gene, encodes a mitochondrial protein required for respiration. J Biol Chem 1997;272:14356–14364
- ↵Bruno C, Biancheri R, Garavaglia B, et al. A novel mutation in the SURF1 gene in a child with Leigh syndrome, peripheral neuropathy, and cytochrome c oxidase deficiency. J Child Neurol 2002;17:233–236
- ↵Barkovich AJ, Good WV, Koch TK, Berg BO. Mitochondrial disorders: analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol 1993;14:1119–1137
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- ↵Topçu M, Saatci I, Apak A, Soylemezoglu F, Akçoren Z. Leigh syndrome in a 3-year-old boy with unusual brain MR imaging and pathologic findings. AJNR Am J Neuroradiol 2000;21:224–227
- ↵Savoiardo M, Ciceri E, D’Incerti L, et al. Symmetric lesions of the subthalamic nuclei in mitochondrial encephalopathies: an almost distinctive mark of Leigh disease with COX deficiency [letter]. AJNR Am J Neuroradiol 1995;16:1746–1747
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- ↵Rahman S, Brown RM, Chong WK, et al. A SURF1 gene mutation presenting as isolated leukodystrophy. Ann Neurol 2001;49:797–800
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Andrea Rossi, Roberta Biancheri, Claudio Bruno, Maja Di Rocco, Angela Calvi, Alice Pessagno, Paolo Tortori-Donati
Leigh Syndrome with COX Deficiency and SURF1 Gene Mutations: MR Imaging Findings
American Journal of Neuroradiology Jun 2003, 24 (6) 1188-1191;
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