Taking all the data together, we conclude that severe contractures in Fbn2 null mice are associated with reduced skeletal muscle mass, abnormal muscle histology, and a delay in expression of the perinatal Myh8. Interestingly, mutations in MYH8 cause the Trismus-pseudocamptodactyly syndrome (a Carney complex variant) in humans, characterized by contractures in hands and feet [25]. The gene discussed is FBN2; the disease is trismus-pseudocamptodactyly syndrome.