ANO5 and Miyoshi myopathy: Mutations in the human TMEM16E gene have been associated both with the autosomal-dominant skeletal dysplasia GDD and with two different forms of recessively inherited muscular dystrophy, proximal LGMD2L (limb-girdle muscular dystrophy-2 l; OMIM: 611307, [15, 20] and Miyoshi myopathy, OMIM: 613319, [5]), consistent with the highest TMEM16E expression found in bone and skeletal muscle [23, 36, 37].