Dystrophin is a low abundant cytoskeletal protein located in the membrane of the muscle fibre, and it is routinely analysed by IHC or Western blot for the diagnosis of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) which are caused by a decrease or absence of the protein [24]. The gene discussed is DNM2; the disease is Duchenne muscular dystrophy.