Since a known missense mutation (R174Q) in fsTnI was shown to be associated with distal arthrogryposis type 2B (DA2B, also known as arthrogryposis multiplex congenita, distal, type 2B) (Westfall and Metzger, 2001), this mutation was also investigated in skeletal muscle to determine if this mutation showed similar in vitro physiological properties as the cTnI R204Q mutation. The gene discussed is TNNI2; the disease is Sheldon-hall syndrome.