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

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...

書誌詳細
主要な著者:	Brownlow, S, Webster, R, Croxen, R, Brydson, M, Neville, B, Lin, J, Vincent, A, Newsom-Davis, J, Beeson, D
フォーマット:	Journal article
言語:	English
出版事項:	2001

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