In the affected individual CZS_28, a female patient, we reported the missense variant rs118192168 (MAF gnomAD: 0.00001) in RYR1 gene previously associated with susceptibility to malignant hyperthermia (OMIM #145600), central core disease (OMIM #117000), and minicore myopathy with external ophthalmoplegia (OMIM #255320). The gene discussed is RYR1; the disease is Minicore myopathy.