JAG2 and limb-girdle muscular dystrophy: Here, we present two siblings exhibiting a severe clinical phenotype of LGMD R27, associated with a novel JAG2 homozygous frameshift variant [c.3467_3470dup, p.(Pro1158AlafsTer22)] results in truncated protein with 21 amino acid substitution within the cytoplasmic domain of the Jagged2 protein.