Arthrogryposis multiplex congenita, distal, type 1A (DA1A)
July 8 2016
Clinical summary Arthrogryposis multiplex congenita, distal, type 1 (DA1) is the prototypic form of distal arthrogryposis and as such is largely characterized by camptodactyly (permanently bent fingers and toes) and clubfoot (inward- and upward-turning foot). Recent evidence suggests that DA1A due to TPM2 mutations results from muscle dysfunction, although distal arthrogryposis was originally defined as being
