Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

Eitemau Tebyg

• Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
  gan: Brownlow, S, et al.
  Cyhoeddwyd: (2000)
• Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
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  Cyhoeddwyd: (2002)
• Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
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  Cyhoeddwyd: (2000)
• Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
  gan: Webster, R, et al.
  Cyhoeddwyd: (2004)
• Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
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  Cyhoeddwyd: (2003)