Among RNF213 patients with MMD, patient 73577, a girl carrying the maternally inherited p.(Thr1705Lys) and p.(Leu1054Met) variants in cis, presented with mid-aortic syndrome, a rare form of aortic coarctation which has been recently linked to RNF213 as well as NF1 variants [33]. This evidence concerns the gene NF1 and multiminicore myopathy.