congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss muscular dystrophies.
This expands the polyalanine tract at the N-terminus of PABPN1 from 10 to 11-17 alanines.
Muscular Dystrophy Association | Duchenne muscular dystrophy | Muscular Dystrophy | Muscular Development | Muscular Christianity | Spinal muscular atrophy | spinal muscular atrophy | Oculopharyngeal muscular dystrophy | Muscular system | muscular dystrophy | Jerry Lewis' Muscular Dystrophy Telethon | Cone dystrophy |