A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome

Neuromuscular Disorders

Volumn 12, Issue 1, 2002, Pages 53-55

  Akagi, Motohiro ^a   Inui, Koji ^a   Tsukamoto, Hiroko ^a   Sakai, Norio ^a   Muramatsu, Takashi ^a   Yamada, Minoru ^a   Matsuzaki, Kouzi ^b   Goto, Yu Ichi ^c   Nonaka, Ikuya ^c   Okada, Shintaro ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Suita Municipal Hospital   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

9176 mutation; Leigh syndrome; Mitochondrial DNA

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ARGININE; LEUCINE; NUCLEOTIDE; PROTEIN SUBUNIT; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CODON; DISEASE COURSE; ENZYME SUBUNIT; FEMALE; HUMAN; LEIGH DISEASE; LEUKOCYTE; MALE; MITOCHONDRION; MOTHER CHILD RELATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; SIBLING;

CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FATAL OUTCOME; FEMALE; HUMANS; LEIGH DISEASE; MALE; MITOCHONDRIA; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; PEDIGREE; POINT MUTATION;

EID: 0036133175     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(01)00242-5     Document Type: Article

References (12)

1. Leigh syndrome: Clinical features and biochemical and DNA abnormalities
2. Heteroplasmic mtDNA mutation (T → G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
3. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
4. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis
5. Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease
6. Getting to the nucleus of mitochondrial disorders: Identification of respiratory chain-enzyme genes causing Leigh syndrome
7. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications
8. Normal variants of human mitochondrial DNA and translation products: The building of a reference data
9. The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli
10. Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA
11. Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene
12. The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome