{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T12:41:04Z","timestamp":1740141664680,"version":"3.37.3"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,3,23]],"date-time":"2016-03-23T00:00:00Z","timestamp":1458691200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004386","name":"University of Malaya","doi-asserted-by":"crossref","award":["HIR Grant H-20001-00-E000031"],"award-info":[{"award-number":["HIR Grant H-20001-00-E000031"]}],"id":[{"id":"10.13039\/501100004386","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Choline acetyltransferase (<jats:italic>CHAT<\/jats:italic>) gene mutations cause a rare presynaptic congenital myasthenic syndrome due to impaired acetylcholine resynthesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report 2 Kadazandusun brothers with novel heterozygous <jats:italic>CHAT<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The siblings were from a family of 7 children of nonconsanguineous parents, 3 who died from apneic crises. Both presented in infancy with ptosis and exertional limb weakness, but only 1 apnea episode was reported in the older sibling. The elder brother had a positive edrophonium test, and both were negative for acetylcholine receptor antibodies but improved with pyridostigmine treatment. A subsequent repetitive nerve stimulation test showed marked decremental response in the abductor digiti minimi only after prolonged ulnar nerve stimulation. Two novel <jats:italic>CHAT<\/jats:italic> gene mutations, p.Val306Leu and p.Ser704del were detected; the parents carried 1 mutation each.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Differences in survival demonstrate phenotypic variability within the same family and a relatively good long\u2010term outcome of the surviving siblings. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>53<\/jats:bold>: 822\u2013826, 2016<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.25037","type":"journal-article","created":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T23:08:48Z","timestamp":1453331328000},"page":"822-826","source":"Crossref","is-referenced-by-count":7,"title":["Congenital myasthenic syndrome due to novel <i>CHAT<\/i> mutations in an ethnic kadazandusun family"],"prefix":"10.1002","volume":"53","author":[{"given":"Joo\u2010San","family":"Tan","sequence":"first","affiliation":[{"name":"Division of Neurology, Department of Medicine, Faculty of Medicine University of Malaya Kuala Lumpur Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomica","family":"Ambang","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine, Faculty of Medicine University of Malaya Kuala Lumpur Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azlina","family":"Ahmad\u2010Annuar","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science, Faculty of Medicine University of Malaya Kuala Lumpur Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giri Shan","family":"Rajahram","sequence":"additional","affiliation":[{"name":"Department of Medicine Hospital Queen Elizabeth Kota Kinabalu Sabah Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kum Thong","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine University of Malaya Kuala Lumpur Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khean Jin","family":"Goh","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine, Faculty of Medicine University of Malaya Kuala Lumpur Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,3,23]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"175","volume-title":"Congenital myasthenic syndromes \u2010 molecular bases of congenital defects of proteins at the neuromuscular junction. 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