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...
Hauptverfasser: | Brownlow, S, Webster, R, Croxen, R, Brydson, M, Neville, B, Lin, J, Vincent, A, Newsom-Davis, J, Beeson, D |
---|---|
Format: | Journal article |
Sprache: | English |
Veröffentlicht: |
2001
|
Ähnliche Einträge
Ähnliche Einträge
-
Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
von: Brownlow, S, et al.
Veröffentlicht: (2000) -
Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
von: Webster, R, et al.
Veröffentlicht: (2002) -
Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
von: Croxen, R, et al.
Veröffentlicht: (2000) -
Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
von: Webster, R, et al.
Veröffentlicht: (2004) -
Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
von: Beeson, D, et al.
Veröffentlicht: (2003)