Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome
T Ferlin, P Landrieu, C Rambaud, H Fernandez… - The Journal of …, 1997 - Elsevier
The Journal of pediatrics, 1997•Elsevier
We identified the T8993G mitochondrial mutation in a female infant who died of Leigh
syndrome. The proportion of mutant mitochondrial DNA increased to near homoplas-my 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.
syndrome. The proportion of mutant mitochondrial DNA increased to near homoplas-my 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.
We identified the T8993G mitochondrial mutation in a female infant who died of Leigh syndrome. The proportion of mutant mitochondrial DNA increased to near homoplas-my 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.
Elsevier
