Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA^{Leu (UUR)} gene generally associated with the MELAS subset of mitochondrial encephalomyopathies

Abstract

The presentation of the mtDNA mutation at nt3243 appears therefore to be quite variable with some mild phenotypes as well as severe phenotypes observed. In general, the chance of finding a mitochondrial point mutation in a patient with an atypical clinical phenotype is small.