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...
Κύριοι συγγραφείς: | Brownlow, S, Webster, R, Croxen, R, Brydson, M, Neville, B, Lin, J, Vincent, A, Newsom-Davis, J, Beeson, D |
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Μορφή: | Journal article |
Γλώσσα: | English |
Έκδοση: |
2001
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Παρόμοια τεκμήρια
Παρόμοια τεκμήρια
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Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
ανά: Brownlow, S, κ.ά.
Έκδοση: (2000) -
Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
ανά: Webster, R, κ.ά.
Έκδοση: (2002) -
Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
ανά: Croxen, R, κ.ά.
Έκδοση: (2000) -
Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
ανά: Webster, R, κ.ά.
Έκδοση: (2004) -
Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
ανά: Beeson, D, κ.ά.
Έκδοση: (2003)