Phenotypic and genotypic peculiarities in Chinese patients with Leigh syndrome

To the Editor: With interest we read the article by Yu et al[1] about a retrospective study of 13 pediatric patients with Leigh syndrome from a single center in China collected over a period of 17 years. The authors concluded that patients with ophthalmoplegia, muscle weakness, ataxia, and respiratory insufficiency should be screened for mutations in genes located on the mtDNA.[1] Patients with suspected Leigh syndrome are recommended to undergo determination of cerebrospinal fluid (CSF) lactate and cerebral imaging.[1] We have the following comment and concerns.