Phenotype and genotype heterogeneity of mitochondrial encephalopathy with lactic acidosis and stroke-like episodes

Abstract : With interest we read the article by Zhang et al. about a study of 524 pediatric patients with a mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS)-like phenotype of whom 40 were positive for the mutation m.3243A > G [1]. From 44 of these patients, 36 carrying the mutation and 8 without the mutation, the clinical presentation was provided in more detail in table 2 of Zhang’s paper [1]. We have the following comments and concerns