Mutations in SURF1 are not specifically associated with Leigh syndrome [2]

Journal of Medical Genetics

Volumn 38, Issue 2, 2001, Pages 109-113

  Von Kleist Retzow, J C ^a   Yao, J ^a   Taanman, J W ^a   Chantrel, K ^a   Chretien, D ^a   Cormier Daire, V ^a   Rotig A ^a   Munnich, A ^a   Rustin, P ^a   Shoubridge, E A ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYTOCHROME C OXIDASE; LACTIC ACID; MITOCHONDRIAL DNA; NUCLEOTIDE; PROLINE; SUCCINATE DEHYDROGENASE;

BRAIN DISEASE; CHROMOSOME 9; CHROMOSOME MAP; FIBROBLAST; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC COMPLEMENTATION; HUMAN; HYPERTRICHOSIS; IMMUNOBLOTTING; INTESTINE VILLUS ATROPHY; LEIGH DISEASE; LETTER; LIVER FAILURE; MISSENSE MUTATION; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESPIRATORY CHAIN; TISSUE SPECIFICITY;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD, PRESCHOOL; CYTOCHROME-C OXIDASE DEFICIENCY; DNA; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; GROWTH DISORDERS; HUMANS; HYPERTRICHOSIS; INFANT; LEIGH DISEASE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION; POINT MUTATION; PROTEINS; SEQUENCE DELETION;

EID: 0035101828     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (35)

1. A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency
2. SURF1 encoding a factor involved in the biogenesis of cytochrome c oxidase is mutated in Leigh syndrome
3. Hepatic failure in disorders of oxidative phosphorylation with neonatal onset
4. Genetic heterogeneity in Leigh syndrome
5. PET genes of Saccharomyces cerevisiae
6. Complementation analysis of systemic cytochrome c oxidase deficiency presenting as Leigh syndrome
7. A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome
8. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
9. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria
10. Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease
11. Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA
12. A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV
13. An mtDNA mutation in the initiation codon of the cytochrome c oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy
14. A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy
15. No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency
16. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SC02 a COX assembly gene
17. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
18. A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency
19. Mutations in SURF1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency
20. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
21. Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with a Leigh syndrome
22. Human mitochondrial complex I in health and disease
23. Biochemical and molecular investigations in respiratory chain deficiencies
24. The biochemical parameters for the diagnosis of respiratory chain deficiency in man and their lack of age-related changes
25. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
26. Biochemical genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency
27. Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions
28. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients
29. Clinical presentation of respiratory chain deficiency
30. Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratodermia and deafness
31. Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy
32. Hair and skin disorders as signs of mitochondrial disease
33. Unusual clinical presentation in two boys with cytochrome c oxidase deficiency
34. SHY1 the yeast homolog of the mammalian SURF-1 gene encodes a mitochondrial protein required for respiration
35. A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-St-Jean region of Quebec