Savarese M, et al. - Using MotorPlex, a targeted gene panel for next-generation sequencing, authors assessed GAA and other muscle disease genes among undiagnosed patients with suspected inherited skeletal muscle disorders. Late-onset Pompe disease was found in 3.47% cases in the subcohort of 275 patients with proximal muscle weakness and/or hyperCKemia. The clinical overlap between Pompe disease and LGMDs or other skeletal muscle disorders indicated that GAA and the genes causing a metabolic myopathy warranted examination in all the gene panels used for testing neuromuscular patients. Nonetheless, it was deduced that enzymatic tests were vital for the interpretation and validation of genetic results.