Leigh syndrome resulting from de novo mutation at position 8993 of mitochodrial DNA

Journal of Inherited Metabolic Disease

Volumn 20, Issue 1, 1997, Pages 102-103

  Seller, A ^a   Kennedy, C R ^b   Temple, I K ^c   Brown, G K ^d  

^a CHURCHILL HOSPITAL   (United Kingdom)

^b SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^c PRINCESS ANNE HOSPITAL   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

CASE REPORT; HUMAN; INFANT; LEIGH DISEASE; MALE; POINT MUTATION; REVIEW;

DNA, MITOCHONDRIAL; FATAL OUTCOME; GUANINE; HUMANS; INFANT, NEWBORN; LEIGH DISEASE; MALE; POINT MUTATION; PROTON-TRANSLOCATING ATPASES; SYNDROME; THYMINE;

EID: 0031049520     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005378011157     Document Type: Review

References (4)

1. Degoul F, Francois M, Diry G et al (1997) A near homoplasmc T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues, J Inher Metab Dis 20: 49 - 53.
2. Holt IJ, Harding AE, Petty RKH, Morgan-Hughes JA (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 46: 428 - 433.
3. Tatuch Y, Christodoulou J, Feigenbaum A et al (1992) Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is hish Am J Hum Genet 50: 852 - 959.
4. Tulinius MH, Houshmand M, Larsson N-G et al (1995) Dc novo mutation in the mitochondrial ATP synthase subunil 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring. Hum Genet 96: 290 - 294