Keywords: Mitochondrial disorder; Multisystem; mtDNA; Phenotype; Genotype
Correspondence
In a recent article, Yee et al. reported about a 31 years old Caucasian male with non-specific mitochondrial multiorgan disorder syndrome (MIMODS) due to the mtDNA variant m.3243A>G [1]. Phenotypic manifestations attributed to the mtDNA variant included diabetes, gastro-intestinal dysmotility, gastro-intestinal pseudo-obstruction, facial dysmorphism, pectus excavatus, nystagmus, ophthalmoparesis, cataract, hypoacusis since childhood, migraine, retinopathy, right retinal detachment (ablatio retinae), and sinus tachycardia [1]. We have the following comments and concerns.