Clinical features of the pathogenic m.5540g > a mitochondrial transfer rna tryptophan gene mutation

• Longitudinal increase in mtDNA mutant load reflects worsening muscle histology.• De novo m.5540G>A mtDNA mutation adds to its credentials as a pathogenic mutation. • Additional clinical findings are cataract, kidney disease and stroke.

Source: Neuromuscular Disorders - August 17, 2016 Category: Neurology Authors: Yi Shiau Ng, Steven A. Hardy, Venice Shrier, Gerardine Quaghebeur, David R Mole, Matthew J. Daniels, Susan M. Downes, Jane Freebody, Carl Fratter, Monika Hofer, Andrea H. Nemeth, Joanna Poulton, Robert W. Taylor Tags: Case report Source Type: research