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

Josef Finsterer (1) , Sinda Zarrouk-Mahjoub (2)

1 Krankenanstalt Rudolfstiftung
2 LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory

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

Domaines: Sciences du Vivant [q-bio]

Josef Finsterer, Sinda Zarrouk-Mahjoub. Phenotype and genotype heterogeneity of mitochondrial encephalopathy with lactic acidosis and stroke-like episodes. International Journal of Clinical and Experimental Pathology, 2016, 9, pp.6595 - 6596. ⟨pasteur-01464733⟩