Congenital myasthenic syndromes: Experiments of nature

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Abstract

Congenital myasthenic syndromes (CMS) can arise from presynaptic, synaptic, or postsynaptic defects. Recent studies indicate that mutations in the acetylcholine receptor (AChR) subunit genes are a common cause of the postsynaptic CMS. The mutations, which increase or decrease the response to acetylcholine, are experiments of nature that highlight functionally significant domains of the AChR.

Original languageEnglish (US)
Pages (from-to)113-117
Number of pages5
JournalJournal of Physiology Paris
Volume92
Issue number2
DOIs
StatePublished - Apr 1998

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Keywords

  • Acetylcholine receptor
  • Congenital myasthenic syndromes
  • Expression studies
  • Mutation analysis

ASJC Scopus subject areas

  • Neuroscience(all)
  • Physiology (medical)

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