Of note, FLNC has a pseudogene located 53.6kb downstream from the functional FLNC gene, and exons 46, 47, and 48 are 98% homologous in the functional and pseudogene.40PRKAG2 is a gene with overwhelming genetic and experimental evidence supporting a definitive association with glycogen storage disease, however the additional reported phenotype of skeletal myopathy with elevated creatine phosphokinase was included.41,42. The gene discussed is FLNC; the disease is Skeletal myopathy.