SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency

Neurology

Volumn 61, Issue 7, 2003, Pages 991-993

  Moslemi, Ali Reza ^a   Tulinius, M ^b   Darin, N ^b   Aman P ^a   Holme, E ^a   Oldfors, A ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE COURSE; EXON; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; LEIGH DISEASE; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SURF1 GENE;

EID: 0141959153     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000082391.98672.0A     Document Type: Article

References (10)

1. Tiranti V, Hoertnagel K, Carrozzo R, et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 1998;63:1609-1621.
2. Zhu Z, Yao J, Johns T, et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 1998;20:337-343.
3. Pequignot MO, Dey R, Zeviani M, et al. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency. Hum Mutat 2001;17:374-381.
4. Moslemi AR, Selimovic N, Bergh CH, Oldfors A. Fatal dilated cardiomyopathy associated with a mitochondrial DNA deletion. Cardiology 2000; 94:68-71.
5. Tulinius M, Holme E, Kristiansson B, Larsson N-G, Oldfors A. Mitochondrial encephalomyopathies in children. I: Biochemical and morphological investigations. J Pediatr 1991;119:242-250.
6. Poyau A, Buchet K, Bouzidi MF, et al. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. Hum Genet 2000;106:194-205.
7. Moslemi AR, Lindberg C, Oldfors A. Analysis of multiple mitochondrial DNA deletions in inclusion body myositis. Hum Mutat 1997;10:381-386.
8. Yao J, Shoubridge EA. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum Mol Genet 1999;8:2541-2549.
9. Coenen MJ, van den Heuvel LP, Nijtmans LG, et al. SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency. Biochem Biophys Res Commun 1999;265:339-344.
10. Pequignot MO, Desguerre I, Dey R, et al. New splicing-site mutations in the SURF1 gene in Leigh syndrome patients. J Biol Chem 2001;276:15326-15329.