However, Rudnik-Schöneborn et al. [6] reported adult-onset autosomal dominant proximal SMA phenotype with LMNA mutations in two families; one family with a novel nonsense mutation Q493X (c.1477C > T) and the other with missense mutation R377H (c.1130G > T) previously described in Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B [7]. The gene discussed is LMNA; the disease is Emery-Dreifuss muscular dystrophy.