For example, patients with homozygous truncating variants in any of the sarcoglycan genes have a quicker progression.9,17 For Fkrp, patients homozygous for the Leu276Ileu variant are less severely affected and are less likely to develop respiratory problems.16 The presence of scoliosis, a sign of axial muscle weakness during childhood, has been also associated with respiratory impairment.12,17. Here, FKRP is linked to Respiratory insufficiency.