Nine of 16 patients (56%) in whom a CMD was suspected were genetically diagnosed with mutations identified in LAMA2, COL6A1, COL6A2, COL6A3 and GMPPB genes, and two remained as partially solved since a second mutation in LAMA2 and COL6A1 genes was missing. Here, COL6A2 is linked to congenital muscular dystrophy.