Phenotype and genotype heterogeneity of mitochondrial encephalopathy with lactic acidosis and stroke-like episodes
Résumé
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]
Origine : Fichiers éditeurs autorisés sur une archive ouverte
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