Novel heteroplasmic mutation in the anticodon stem of mitochondrial tRNALys associated with dystonia and stroke-like episodes

Abstract

The novel A8332G heteroplasmic mutation is most likely a new cause of dystonia and stroke-like episodes due to mitochondrial encephalopathy. The synergistic effect of the G8697A, A11812G and T10463C single nucleotide polymorphisms may modify the phenotype.