Recently, it has been reported that a patient with KLHL40-related myopathy due to the c.604delG/p.Ala202Argfs*56 and c.1513G>C/p.Ala505Pro mutations responded extremely well, and for a prolonged period, to a high dose of pyridostigmine (20 mg/kg/day). This evidence concerns the gene KLHL40 and myopathy.