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

Publication at Second Faculty of Medicine |
2010

Abstract

Mitochondrial diseases are a very heterogeneous group of disorders affecting the nervous system, heart and skeletal muscle. The mutations are situated in nuclear DNA with Mendelian heredity and in mitochondrial DNA with maternal-type heredity.

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.

The data should prove helpful in the exact diagnosis of patients with this phenotype.