Mutations in TMEM16E cause limb girdle muscular dystrophy type 2L (LGMD2L) (71), an autosomal recessive, late-onset muscular dystrophy, or gnathodiaphyseal dysplasia (GDD) (72), an extremely rare autosomal dominant pediatric bone disease. Here, ANO5 is linked to autosomal recessive limb-girdle muscular dystrophy type 2L.