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...
Հիմնական հեղինակներ: | Brownlow, S, Webster, R, Croxen, R, Brydson, M, Neville, B, Lin, J, Vincent, A, Newsom-Davis, J, Beeson, D |
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Ձևաչափ: | Journal article |
Լեզու: | English |
Հրապարակվել է: |
2001
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Նմանատիպ նյութեր
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Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
: Brownlow, S, և այլն
Հրապարակվել է: (2000) -
Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
: Webster, R, և այլն
Հրապարակվել է: (2002) -
Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
: Croxen, R, և այլն
Հրապարակվել է: (2000) -
Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
: Webster, R, և այլն
Հրապարակվել է: (2004) -
Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
: Beeson, D, և այլն
Հրապարակվել է: (2003)