The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

Neurology

Volumn 56, Issue 5, 2001, Pages 687-690

  Carrozzo, R ^a   Tessa, A ^a   Vazquez Memije M E ^b   Piemonte, F ^a   Patrono, C ^a   Malandrini, A ^c   Dionisi Vici, C ^a   Vilarinho, L ^d   Villanova, M ^e   Schagger H ^f   Federico, A ^c   Bertini, E ^a   Santorelli, Filippo M ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^c UNIVERSITY OF SIENA   (Italy)

^d Institute of Genetics Jacinto Magalhães   (Portugal)

^e RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^f UNIVERSITY HOSPITAL FRANKFURT   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE 6; ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL DNA; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LEIGH DISEASE; MITOCHONDRION; NERVE DEGENERATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SCHOOL CHILD; SKIN FIBROBLAST; SPINOCEREBELLAR DEGENERATION;

EID: 0035853011     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.56.5.687     Document Type: Article

References (10)

1. Subacute necrotizing encephalomyopathy in an infant
2. Genetic heterogeneity in Leigh syndrome
3. O cells completely lacking mtDNA
4. Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome
5. Mitochondrial membrane potential monitored by JC-1 dye
6. Electrophoretic techniques for isolation and quantification of oxidative phosphorylation complexes from human tissues
7. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis
8. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation
9. Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene
10. 0 ATP synthase in Escherichia coli