Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

Neurology

Volumn 57, Issue 8, 2001, Pages 1440-1446

  Jaksch, M ^a,b   Horvath, R ^a,b   Horn, N ^g   Auer, D P ^d   Macmillan, C ^h   Peters, J ^a,c   Gerbitz, K D ^a,b   Kraegeloh Mann, I ⁱ   Muntau, A ^e   Karcagi, V ^j   Kalmanchey, R ^k   Lochmuller, H ^f   Shoubridge, E A ^l   Freisinger, P ^a,c  

^a Metabolic Disease Center Munich Schwabing   (Germany)

^b Institute of Clinical Chemistry Molecular Diagnostics and Mitochondrial Genetics   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

^e UNIVERSITY OF MUNICH   (Germany)

^f LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^g John F Kennedy Institute   (Germany)

^h UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

ⁱ UNIVERSITY OF TÜBINGEN   (Germany)

^j National Institute of Public Health Budapest   (Hungary)

^k SEMMELWEIS UNIVERSITY   (Hungary)

^l MCGILL UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COPPER; CYTOCHROME C OXIDASE;

ARTICLE; CASE REPORT; CHILD; COPPER METABOLISM; DISEASE COURSE; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY; MISSENSE MUTATION; MITOCHONDRIAL MEMBRANE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SCO2 GENE; SEQUENCE HOMOLOGY;

EID: 0035940540     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.8.1440     Document Type: Article

References (22)

1. Mitochondrial disorders
2. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome
3. Ser-(UCN) mutations in a subgroup with syndromal encephalopathy
4. Identification and characterization of human cD-NAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain
5. Surf1, a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
6. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
7. Fatal infantile cardioencephalomyopathy with cytochrome c oxidase (COX) deficiency and mutations in SCO2, a human COX assembly gene
8. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
9. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2
10. A mutation in the human heme A: Farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency
11. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase (COX) deficiency with neonatal-onset hepatic failure and encephalopathy
12. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency
13. SCO1 and SCO2 act as high copy suppressors of a mitochondrial copper recruitment defect in Saccharomyces cerevisiae
14. A human SCO2 mutation helps define the role of Scolp in the cytochrome oxidase assembly pathway
15. Estimation of metabolite concentrations from localized in vivo proton NMR spectra
16. Menkes disease: Recent advances and new aspects
17. A mitochondrial encephalomyopathy: The first case with an established defect at the level of coenzyme
18. Characterization of human SCO1 and COX17 genes in mitochondrial cytochromec-oxidase deficiency
19. Cytochrome c oxidase assembly factors with a thioredoxin fold are conserved among prokaryotes and eukaryotes
20. Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins
21. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients