While biallelic disruptions of TANGO2 have been reported to cause pediatric metabolic myopathies [22, 23], the function of TANGO2 remains unknown and the metabolic phenotype is ascribed to the loss of the other TANGO2 isoforms that are not altered by the TANGO2 p.Ser17Ter variant described here. Here, TANGO2 is linked to metabolic myopathy.