{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T10:47:03Z","timestamp":1784890023245,"version":"3.55.0"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,12,31]],"date-time":"2021-12-31T00:00:00Z","timestamp":1640908800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004324","name":"Astellas Pharma US","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004324","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital myasthenic syndromes (CMS) is a group of diseases that causes abnormalities at the neuromuscular junction owing to genetic anomalies. The pathogenic variant in <jats:italic>ALG14<\/jats:italic> results in a severe pathological form of CMS causing end\u2010plate acetylcholine receptor deficiency. Here, we report the cases of two siblings with CMS associated with a novel variant in <jats:italic>ALG14<\/jats:italic>. Immediately after birth, they showed hypotonia and multiple joint contractures with low Apgar scores. Ptosis, low\u2010set ears, and high\u2010arched palate were noted. Deep tendon reflexes were symmetrical. They showed worsening swallowing and respiratory problems; hence, nasal feeding and tracheotomy were performed. Cranial magnetic resonance imaging scans revealed delayed myelination and cerebral atrophy. Exome sequencing indicated that the siblings had novel compound heterozygous missense variants, c.590T&gt;G (p.Val197Gly) and c.433G&gt;A (p.Gly145Arg), in exon 4 of <jats:italic>ALG14<\/jats:italic>. Repetitive nerve stimulation test showed an abnormal decrease in compound muscle action potential. After treatment with pyridostigmine, the time off the respirator increased. Their epileptic seizures were well controlled by anti\u2010epileptic drugs. Their clinical course is stable even now at the ages of 5 and 2\u2009years, making them the longest reported survivors of a severe form of CMS with the <jats:italic>ALG14<\/jats:italic> variant thus far.<\/jats:p>","DOI":"10.1002\/ajmg.a.62629","type":"journal-article","created":{"date-parts":[[2021,12,31]],"date-time":"2021-12-31T11:13:07Z","timestamp":1640949187000},"page":"1293-1298","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the <scp><i>ALG14<\/i><\/scp> pathogenic variant"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6595-3537","authenticated-orcid":false,"given":"Yu","family":"Katata","sequence":"first","affiliation":[{"name":"Department of Pediatrics Tohoku University School of Medicine  Sendai 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