DISEASE: Contractures, pterygia, and spondylocarpotarsal fusion syndrome
エントリ
H02717
名称
Contractures, pterygia, and spondylocarpotarsal fusion syndrome
概要
Contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS) is a myosinopathy characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions. Mutations of MYH3 (myosin heavy chain 3) are responsible for this disease. MYH3 is mainly expressed in embryonic development, as well in the adult regenerative distal muscle tissue.
Zhao S, Zhang Y, Hallgrimsdottir S, Zuo Y, Li X, Batkovskyte D, Liu S, Lindelof H, Wang S, Hammarsjo A, Yang Y, Ye Y, Wang L, Yan Z, Lin J, Yu C, Chen Z, Niu Y, Wang H, Zhao Z, Liu P, Qiu G, Posey JE, Wu Z, Lupski JR, Micule I, Anderlid BM, Voss U, Sulander D, Kuchinskaya E, Nordgren A, Nilsson O, Zhang TJ, Grigelioniene G, Wu N
タイトル
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
