This was, for instance, the case for COL6A1 [24], associated with Bethlem myopathy 1 (OMIM #158810) and Ullrich congenital muscular dystrophy 1 (OMIM #254090), and for IQSEC1 [25], associated with severe ID (OMIM #618687). The gene discussed is IQSEC1; the disease is Bethlem myopathy.