This variant was not observed in the gnomAD (http://gnomad-sg.org/), Exome Sequencing Project (https://evs.gs.washington.edu/EVS/), and 1000 Genomes (https://www.internationalgenome.org/) databases, and had been found in four patients with MSTO1 related myopathy and ataxia (9, 11). The gene discussed is MSTO1; the disease is myopathy.