Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations

Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission characterized by fatigable muscle weakness. Autosomal recessive acetylcholine receptor (AChR) deficiency syndromes, in which levels of this receptor at the neuromuscular junction are severely reduced, may be caused...

詳細記述

書誌詳細
主要な著者: Cossins, J, Burke, G, Maxwell, S, Spearman, H, Man, S, Kuks, J, Vincent, A, Palace, J, Fuhrer, C, Beeson, D
フォーマット: Journal article
言語:English
出版事項: 2006