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J Pediatr. 1997 Sep;131(3):447-9.

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

Author information

1
Laboratoire de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France.

Abstract

We identified the T8993G mitochondrial mutation in a female infant who died of Leigh syndrome. The proportion of mutant mitochondrial DNA increased to near homoplasmy in three generations of the pedigree. A similarly high proportion of mutant mitochondrial DNA was found in the chorionic villi and in fetal tissues from a pregnancy interrupted because of the risk of Leigh syndrome. This study supports the concept that prenatal diagnosis can be used for Leigh syndrome with the T8993G mitochondrial DNA mutation.

PMID:
9329425
DOI:
10.1016/s0022-3476(97)80074-1
[Indexed for MEDLINE]

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