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Article

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.

Annals of neurology - 1 Aug 1998

Ohno K, Anlar B, Ozdirim E, Brengman J M, DeBleecker J L, Engel A G

Abstract excerpt

We report and functionally characterize five new mutations of the acetylcholine receptor (AChR) in 11 Turkish patients with recessive congenital myasthenic syndromes (CMS) belonging to six families. All mutations are in the epsilon-subunit gene. Parental consanguinity is present in three families. The disease cosegregates with homozygous mutations in five families and with two different heteroallelic mutations in...

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PMID: 9708546
DOI: 10.1002/ana.410440214

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

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