Congenital myasthenic syndromes

Experiments of nature

Research output: Contribution to journalArticle

8 Citations (Scopus)

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

Fingerprint

Congenital Myasthenic Syndromes
Cholinergic Receptors
Mutation
Acetylcholine
Genes

Keywords

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

ASJC Scopus subject areas

  • Physiology (medical)
  • Neuroscience(all)

Cite this

Congenital myasthenic syndromes : Experiments of nature. / Engel, Andrew G; Ohno, Kinji; Sine, Steven M.

In: Journal of Physiology Paris, Vol. 92, No. 2, 04.1998, p. 113-117.

Research output: Contribution to journalArticle

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