Functional impact of an oculopharyngeal muscular dystrophy mutation in PABPN1

Key points Mutations in the gene encoding poly(A)‐binding protein nuclear 1 (PABPN1) result in oculopharyngeal muscular dystrophy (OPMD). This disease is of late‐onset, but the underlying mechanism is unclear. Ca 2+ stimulates muscle growth and contraction and, because OPMD courses with muscle atrophy and weakness, we hypothesized that the homeostasis of Ca 2+ is altered in this disorder. C2C12 myotubes were transfected with cDNAs encoding...