FKTN and muscle-eye-brain disease: Two compound heterozygous missense variants were identified in the fukutin gene (FKTN): c.[915G>C];[920G>A] (p.[Trp305Cys];[Arg307Gln]) in the proband from Family B. The Arg307Gln variant has previously been reported in 2 patients with LGMD and a patient with CMD in compound heterozygous state with frameshift variants in FKTN and Trp305Cys variant has been reported in one patient with Muscle-Eye-Brain disease-Fukuyama Congenital Muscular Dystrophy phenotype [10, 11], supporting that they are pathogenic variants.