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...
المؤلفون الرئيسيون: | Brownlow, S, Webster, R, Croxen, R, Brydson, M, Neville, B, Lin, J, Vincent, A, Newsom-Davis, J, Beeson, D |
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التنسيق: | Journal article |
اللغة: | English |
منشور في: |
2001
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مواد مشابهة
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Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
حسب: Brownlow, S, وآخرون
منشور في: (2000) -
Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
حسب: Webster, R, وآخرون
منشور في: (2002) -
Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
حسب: Croxen, R, وآخرون
منشور في: (2000) -
Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
حسب: Webster, R, وآخرون
منشور في: (2004) -
Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
حسب: Beeson, D, وآخرون
منشور في: (2003)