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Article

Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.

Neurology - 28 May 2002

Croxen Rebecca, Vincent Angela, Newsom-Davis John, Beeson David

Abstract excerpt

A reduction in the number of acetylcholine receptors (AChR) on the postsynaptic membrane is characteristic of MG. This may be inherited (AChR deficiency syndrome) or acquired (MG). The authors report two sisters with AChR deficiency caused by heteroallelic mutations in the AChR epsilon-subunit gene. The younger sister developed MG at 34 years. This unusual case raises the possibility that genetic defects of the...

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Source

Identifiers

PMID: 12034803
DOI: 10.1212/wnl.58.10.1563

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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