The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype.

Abstract

The m.3243A>G point mutation in the mitochondrial tRNA(Leu(UUR)) (MTTL1) gene is a common cause of mitochondrial DNA disease and is associated with a variety of clinical presentations. A different mutation occurring at the same site - an m.3243A>T transversion - is less prevalent, but has previously been observed in two patients with encephalopathy and lactic acidosis. We report the investigations of a further two patients with the m.3243A>T mutation who presented with either a chronic progressive external ophthalmoplegia (CPEO) phenotype or sensorineural hearing loss, with single fibre mutation studies confirming segregation of the m.3243A>T mutation with COX deficiency.

DOI: 10.1016/j.nmd.2010.04.003

Cite this paper

@article{Alston2010ThePM, title={The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype.}, author={Charlotte L. Alston and Andreas Bender and Iain P. Hargreaves and Helen R Mundy and Charulata Deshpande and Thomas Klopstock and R. James McFarland and Rita Horvath and R. W. Taylor}, journal={Neuromuscular disorders : NMD}, year={2010}, volume={20 6}, pages={403-6} }