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...
Үндсэн зохиолчид: | Brownlow, S, Webster, R, Croxen, R, Brydson, M, Neville, B, Lin, J, Vincent, A, Newsom-Davis, J, Beeson, D |
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Формат: | Journal article |
Хэл сонгох: | English |
Хэвлэсэн: |
2001
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Ижил төстэй зүйлс
Ижил төстэй зүйлс
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Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
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Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
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Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
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