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Acetylcholine receptor δ 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...

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Hlavní autoři: Brownlow, Sharon, Webster, Richard, Croxen, Rebecca, Brydson, Martin, Neville, Brian, Lin, Jean-Pierre, Vincent, Angela, Newsom-Davis, John, Beeson, David
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2001
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC209343/
https://ncbi.nlm.nih.gov/pubmed/11435464
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