To the best of our knowledge, a combination of RCM, scoliosis, camptodactyly, torticollis, and arthrogryposis have not been previously reported in other patients with FLNC mutations and, being present in almost half of the studied patients, are suggested to represent typical features of the described pediatric form of filaminopathy. This evidence concerns the gene FLNC and myofibrillar myopathy 5.