TY - JOUR AU - Guo, Yiming AU - Kronert, William A. AU - Hsu, Karen H. AU - Huang, Alice AU - Sarsoza, Floyd AU - Bell, Kaylyn M. AU - Suggs, Jennifer A. AU - Swank, Douglas M. AU - Bernstein, Sanford I. PY - 2020 DA - 2020/08/15 TI - Drosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism JO - Skeletal Muscle SP - 24 VL - 10 IS - 1 AB - Distal arthrogryposis (DA) is a group of autosomal dominant skeletal muscle diseases characterized by congenital contractures of distal limb joints. The most common cause of DA is a mutation of the embryonic myosin heavy chain gene, MYH3. Human phenotypes of DA are divided into the weakest form–DA1, a moderately severe form–DA2B (Sheldon-Hall Syndrome), and a severe DA disorder–DA2A (Freeman-Sheldon Syndrome). As models of DA1 and DA2B do not exist, their disease mechanisms are poorly understood. SN - 2044-5040 UR - https://doi.org/10.1186/s13395-020-00241-6 DO - 10.1186/s13395-020-00241-6 ID - Guo2020 ER -