Although there are no existing animal models that mimic Carey-Fineman-Ziter syndrome resulting from MYMK mutations, mutations in DYSF, the gene responsible for heterogenous limb-girdle muscular dystrophy type 2B (LGMD2B), results in myoblast fusion deficiency. Here, MYMK is linked to autosomal recessive limb-girdle muscular dystrophy type 2B.