CLINICAL, BIOCHEMICAL, AND MOLECULAR ANALYSIS OF A MATERNALLY INHERITED CASE OF LEIGH-SYNDROME (MILS) ASSOCIATED WITH THE MTDNA T8993G POINT MUTATION

We report a new case of Leigh disease (subacute necrotizing encephalom yelopathy) in a girl with mitochondrial DNA (mtDNA) mutation in the AT Pase6 gene at nucleotide position 8993. Sequence analysis of mtDNA rev ealed a T-to-G transversion at nucleotide position 8993 in the ATPase6 gene. Southern blot restriction analysis of patient muscle mtDNA show ed only a mutant pattern for the mutation 8993, Molecular analysis of seven subjects from the family showed that except for the father they all carried the 8993 mtDNA mutation in all studied tissues, with high percentages in the two symptomatic children and even in one asymptomat ic boy.