COL9A3 and myopathy: Data analysis revealed the presence of a likely pathogenic missense variant in COL9A3 (NM_001853.4) (Supplementary Figure S1B, Table 1), a gene causative of epiphyseal dysplasia, type 3, with or without myopathy (MIM#: 600969, ORPHA: 166002) with an autosomal dominant pattern of inheritance.