PLEC and myotonic dystrophy: For example, TTN, CAPN3, PLEC and SGCA are linked to Limb-Girdle muscular dystrophy (64–69), DMD is linked to Duchenne muscular dystrophy and Becker muscular dystrophy (70,71), and BIN1, TNNT2/3 and MBNL1 are mis-spliced in myotonic dystrophy (72) and all of these are mis-spliced and/or have missing muscle-specific splice variants in many of the patients in our cohort.