{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:09:57Z","timestamp":1777856997123,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2020,10,13]],"date-time":"2020-10-13T00:00:00Z","timestamp":1602547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2020,10,13]]},"abstract":"<jats:p>Congenital myasthenic syndromes (CMS) result from genetic mutations that cause aberrations in structure and\/or function of proteins involved in neuromuscular transmission. The slow-channel CMS (SCCMS) is an autosomal dominant postsynaptic defect caused by mutations in genes encoding alpha, beta, delta, or epsilon subunits of the acetylcholine receptor resulting in a functional defect which is an increase of the opening time of the receptor. We report a case of SCCMS due to a heterozygous mutation in the M2 domain of the AChR alpha subunit - CHRNA1:ENST00000348749.6:exon7:c.806T&gt;G:p.Val269Gly and corresponding kinetic defect. A substitution of valine with phenylalanine in the same position has been previously described. This is the first reported case of a new CHRNA1 variant in a patient with SCCMS from South Asia. We also highlight the phenotype that would favour a genetic basis over an autoimmune one, in an adult presenting with fatigable weakness.<\/jats:p>","DOI":"10.3233\/jnd-200566","type":"journal-article","created":{"date-parts":[[2020,11,20]],"date-time":"2020-11-20T09:59:57Z","timestamp":1605866397000},"page":"163-167","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report"],"prefix":"10.1177","volume":"8","author":[{"given":"Inuka Kishara","family":"Gooneratne","sequence":"first","affiliation":[{"name":"National Hospital of Sri Lanka, Colombo, Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanika","family":"Nandasiri","sequence":"additional","affiliation":[{"name":"National Hospital of Sri Lanka, Colombo, Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Maxwell","sequence":"additional","affiliation":[{"name":"Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, Oxford, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Webster","sequence":"additional","affiliation":[{"name":"Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, Oxford, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Cossins","sequence":"additional","affiliation":[{"name":"Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, Oxford, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Beeson","sequence":"additional","affiliation":[{"name":"Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, Oxford, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamal","family":"Gunaratne","sequence":"additional","affiliation":[{"name":"National Hospital of Sri Lanka, Colombo, Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lalinka","family":"Herath","sequence":"additional","affiliation":[{"name":"Human Genetics Unit, University of Colombo, Colombo, Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunethra","family":"Senanayake","sequence":"additional","affiliation":[{"name":"National Hospital of Sri Lanka, Colombo, Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thashi","family":"Chang","sequence":"additional","affiliation":[{"name":"National Hospital of Sri Lanka, Colombo, Sri Lanka"},{"name":"Department of Clinical Medicine, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2020,11,18]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006478"},{"key":"ref002","unstructured":"EngelAG In: Myasthenic syndromes. 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