Article
A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
Neurology - 1 May 1994
Santorelli F M, Shanske S, Jain K D, Tick D, Schon E A, DiMauro S
Abstract excerpt
A 5-year-old child with clinical and radiologic evidence of Leigh syndrome (LS) showed a T-->C mutation at position nt 8993 in the mitochondrial DNA (instead of the more common T-->G substitution), resulting in an amino acid change from a highly conserved leucine to proline in subunit 6 of mitoch...
Topics
- Adenosine Triphosphatases
- Base Sequence
- Child, Preschool
- DNA, Mitochondrial
- Humans
- Leigh Disease
- Male
- Molecular Sequence Data
- Mutation