A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy
September 11th, 2009 Posted by: admin
Sanaker PS, Nakkestad HL, Downham E, Bindoff LA. A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy.Acta Neurol Scand: DOI: 10.1111/j.1600-0404.2009.01243.x.© 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard.Background [ndash] Mitochondrial DNA (mtDNA) mutations are increasingly being recognized as causes of late-onset disease. We report a patient with a late-onset mitochondrial encephalomyopathy caused by a novel G > C transition in mtDNA at position 5556 in the gene encoding the tRNA for tryptophan (MTTW).Aims [ndash] To investigate the cause of disease and assess the pathogenicity of this new mutation.Methods [ndash] Clinical, histopathological and gene sequencing studies. Quantification of the mutation was per
