VCAN and Ehlers-Danlos syndrome: Patient 16, a 25 years old female, presents compound variants in tenascin XB (TNXB), which is mutated in Ehlers-Danlos syndrome, a disease that has already been reported to have phenotypic overlap with muscle weakness50–53 and whose compound heterozygous variants have been reported for a primary myopathy case54,55; and versican (VCAN), which has been suggested to modify tenascin C expression56 and is upregulated in Duchenne muscular dystrophy mouse models57,58.