Mutations in Fukutin-related protein (FKRP) cause muscular dystrophy with wide range of disease phenotypes from mild limb girdle muscular dystrophy 2I (LGMDR9) to severe congenital muscular dystrophy (CMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease [1–3]. The gene discussed is FKRP; the disease is muscular dystrophy.