Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

Limitation of movement during fetal development may lead to multiple joint contractures in the neonate, termed arthrogryposis multiplex congenita. Neuromuscular disorders are among the many different causes of reduced fetal movement. Many congenital myasthenic syndromes (CMSs) are due to mutations o...

Mô tả đầy đủ

Chi tiết về thư mục
Những tác giả chính: Brownlow, S, Webster, R, Croxen, R, Brydson, M, Neville, B, Lin, J, Vincent, A, Newsom-Davis, J, Beeson, D
Định dạng: Journal article
Ngôn ngữ:English
Được phát hành: 2001