Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease

Archives of Neurology

Volumn 59, Issue 5, 2002, Pages 862-865

  Salviati, Leonardo ^a,b   Sacconi, Sabrina ^a,c   Rasalan, Minerva M ^d   Kronn, David F ^d   Braun, Alex ^d   Canoll, Peter ^a   Davidson, Mercy ^a   Shanske, Sara ^a   Bonilla, Eduardo ^a   Hays, Arthur P ^a   Schon, Eric A ^a   DiMauro, Salvatore ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^d NEW YORK MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MESSENGER RNA;

ARTICLE; ASTROCYTOSIS; CASE REPORT; DIFFERENTIAL DIAGNOSIS; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC SCREENING; HEART FAILURE; HISTOCHEMISTRY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; LACTIC ACIDOSIS; MOTONEURON; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NEURORADIOLOGY; PRIORITY JOURNAL; RESPIRATORY CHAIN; SPINAL MUSCULAR ATROPHY; WERDNIG HOFFMANN DISEASE;

EID: 0036096893     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.59.5.862     Document Type: Article

References (12)

1. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
2. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a human COX assembly gene
3. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy
4. A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency
5. SCO1 and SCO2 act as high copy suppressors of a mitochondrial copper recruitment defect in Saccharomyces cerevisiae
6. Cytochemistry and immunocytochemistry of mitochondria in tissue sections
7. Cytochrome c oxidase deficiency in Leigh syndrome
8. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
9. Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy
10. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2
11. Spinal muscular atrophy: Present state