One family with myopathy, Paget’s disease of bone, dementia and ALS was described with a mutation in the heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1) which encodes HNRNPA2 and HNRNPB1 proteins that play a role in the packaging of nascent mRNA, thus, in several mRNA-related processes [41]. The gene discussed is HNRNPA2B1; the disease is myopathy.