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Previously, a biallelic loss\u2010of\u2010function variant in <jats:italic>UNC50<\/jats:italic> was reported in an individual with lethal arthrogryposis multiplex congenita. We herein describe affected individuals from two unrelated families with arthrogryposis multiplex congenita in one family and a severe early\u2010onset neuromuscular dysfunction in the other, both within the spectrum of congenital myasthenia syndrome. A biallelic variant, c.644\u201013_644\u20109del, p.? in intron 5 of <jats:italic>UNC50<\/jats:italic> (NM_014044.7) was identified in both families. Transcript analysis in the peripheral blood cDNA of the heterozygous carrier parents of family 1 revealed that the c.644\u201013_644\u20109del variant leads to aberrant splicing. With these findings, we validated the association of disease\u2010causing variants in <jats:italic>UNC50<\/jats:italic> with congenital myasthenia syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.64086","type":"journal-article","created":{"date-parts":[[2025,4,12]],"date-time":"2025-04-12T11:20:46Z","timestamp":1744456846000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Biallelic Variant, c.644\u201013_644\u20109del in <scp><i>UNC50<\/i><\/scp> Is Associated With Congenital Myasthenia Syndrome"],"prefix":"10.1002","volume":"197","author":[{"given":"Mangalore S.","family":"Shravya","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Greeshma","family":"Purushothama","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics 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