High mitochondrial DNA T8993G mutation (>90%) without typical features of leigh's and NARP syndromes

Journal of Child Neurology

Volumn 16, Issue 7, 2001, Pages 533-535

  Tsao, C Y ^a   Mendell, J R ^a   Bartholomew, D ^a  

^a OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; GUANINE; MITOCHONDRIAL DNA; THYMINE;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; BEHAVIOR DISORDER; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION FUNCTION; DEMENTIA; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENE MUTATION; HUMAN; LEARNING DISORDER; LEIGH DISEASE; MALE; MENTAL DEFICIENCY; MUSCLE WEAKNESS; NARP SYNDROME; NEUROPATHOLOGY; NEUROPATHY; PERCEPTION DEAFNESS; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SEIZURE; SENSORY NEUROPATHY; SYNDROME;

EID: 0034910899     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307380101600716     Document Type: Article

References (15)

1. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
2. The 8993 mtDNA mutation: Heteroplasmy and clinical presentation in three families
3. Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including cerebral palsy
4. Subacute necrotizing encephalopathy: Oxidative phosphorylation defects and the ATPase 6 point mutation
5. Four families with variable presentation of the 8993 mtDNA mutation within the ATPase 6 gene
6. Maternally inherited Leigh's syndrome
7. Mitochondrial DNA mutation and Leigh's syndrome
8. The mutation at nt8993 of mitochondrial DNA is a common cause of Leigh's syndrome
9. Clinical and molecular studies in three Portuguese mtDNA T8993G families
10. Heteroplasmic mtDNA mutation (T → G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
11. Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt 3243 of mitochondrial DNA (MELAS) mutation
12. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
13. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14848
14. The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy
15. Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background