Cerino et al. noted a case of a rimmed vacuolar myopathy in a GNE-negative cohort [64], although there is no convincing evidence for the identified ACTA1 variant (p.Ala146Val) being causative, and this change has since been removed from HGMD as being disease-causing. This evidence concerns the gene ACTA1 and X-linked myopathy with excessive autophagy.