Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues family at risk of Leigh syndrome

Journal of Pediatrics

Volumn 131, Issue 3, 1997, Pages 447-449

  Ferlin, T ^a   Landrieu, P ^a   Rambaud, C ^a   Fernandez, H ^a   Dumoulin, R ^a   Rustin, P ^a   Mousson, B ^a  

^a HÔPITAL DEBROUSSE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CASE REPORT; CHORION VILLUS; EMBRYO DEVELOPMENT; FEMALE; GENE SEGREGATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; LEIGH DISEASE; PHENOTYPE; POINT MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK ASSESSMENT;

EID: 0030665556     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(97)80074-1     Document Type: Article

References (11)

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3. Tatuch Y Christodoulou J Feigenbaum A Clarke JTR Wherret J Smith C 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
4. Santorelli FM Shanske S Macaya A De Vivo DC Di Mauro S The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome Ann Neurol 34 1993 827 834
5. 8993 T→G disease Am J Hum Genet 50 1992 629 633
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9. (8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome Am J Hum Genet 51 1992 1201 1212
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11. Jenuth JP Peterson AC Fu K Shoubridge EA Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA Nature Genet 14 1996 146 151