Myoclonic Epilepsy and Deafness in Siblings with the 7512T > C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports

Abstract

We describe a natural clinical course, the results of biochemical and molecular genetic measurements from two siblings with mitochondrial disorders due to mutation 7512T>C in the gene for mitochondrial tRNA for serine. The mutation is associated with myoclonic epilepsy, deafness, ataxia, calcification in the basal ganglia and decreased cytochrome c oxidase activity.

Keywords

• mitochondrial disease
• myoclonic epilepsy
• deafness
• calcification in basal ganglia
• cytochrom c oxidase deficiency
• transfer RNA