Article
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B.
Prenatal diagnosis - 1 May 2007
Jiang Miao, Bian Chaoying, Li Xuefu, Man Xiaohui, Ge Wang, Han Weitian, Bao Haixia, Li Yunqing, Yi Dongxu, Guan Yanmin, Li Jianxin
Abstract excerpt
Autosomal dominant distal arthrogryposes (DAs) are a group of muscle diseases characterized by congenital contractures of the limbs. Currently, prenatal diagnosis of DAs depends upon ultrasound examination during late gestation. Recently, five genes encoding fast switch proteins located at 9p13.2, 11p15.5 and 17q13.1 were identified. These included TPM2, TNNI2/TNNT3, and MYH3/MYH8. Last year, we discovered a...
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