De novo mtDNA nt 8993 (T→G) mutation resulting in Leigh syndrome [3]

American Journal of Human Genetics

Volumn 62, Issue 3, 1998, Pages 717-719

  Takahashi, S ^a   Makita, Y ^a   Oki, J ^a   Miyamoto, A ^a   Yanagawa, J ^a   Naito, E ^a   Goto Y , I ^a   Okuno, A ^a  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

CASE REPORT; GENE MUTATION; HUMAN; INFANT; LEIGH DISEASE; LETTER; MALE; MOSAICISM; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

EID: 0031960245     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301751     Document Type: Letter

References (10)

1. RB Blok DA Gook DR Thorburn HHM Dahl Skewed segregation of the mtDNA nt 8993 (T→G) mutation in human oocytes Am J Hum Genet 60 1997 1495 1501
2. K Fu R Hartlen T Johns A Genge G Karpati EA Shoubridge A novel heteroplasmic tRNAleu (CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy Hum Mol Genet 5 1996 1835 1840
3. RE Giles H Blanc HM Cann DC Wallance Maternal inheritance of human mitochondrial DNA Proc Natl Acad Sci USA 77 1980 6715 6719
4. P Mäkelä-Bengs A Suomalainen A Majander J Rapola H Kalimo A Nuutila H Pihko Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome Pediatr Res 37 1995 634 639
5. J Poulton K Morten Noninvasive diagnosis of the MELAS syndrome from blood DNA Ann Neurol 34 1993 116
6. FM Santorelli S Shanske A Macaya DC DeVivo S DiMauro The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome Ann Neurol 34 1993 827 834
7. Lys mutation Cell 61 1990 931 937
8. Y Tatuch J Christrodoulou A Feigenbaum JTR Clarke J Wherret C Smith N Rudd Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high Am J Hum Genet 50 1992 852 858
9. MH Tulinius M Houshmand NG Larsson E Holme A Oldfors E Holmberg J Wahlström De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring Hum Genet 96 1995 290 294
10. K Weber JN Wilson L Taylor E Brierley MA Johnson DM Turnbull LA Bindoff A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle Am J Hum Genet 60 1997 373 380