Studies of pathgenic ECHS1 mutations in Leigh Syndrome

Here, we report patients with clinical syndromes typified as Leigh Syndrome. Despite different initial symptoms, all patients presented development regression, dystonia, common radiological features like symmetrical bilateral brain abnormalities, and similar metabolic results such as elevated plasma lactate and 2,3-dihydroxy-2-methylbutyrate. Utilizing whole-exome sequencing (WES), we aimed to identify pathgenic ECHS1 mutaitons in the families .