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Article

Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome.

American journal of medical genetics. Part A - 1 Aug 2025

Shravya Mangalore S, Purushothama Greeshma, Radhakrishnan Periyasamy, Hebbar Malavika, Guruvare Shyamala, Mathew Mary, Bhavani Gandham SriLakshmi, Bajaj Shruti, Girisha Katta M, Shukla Anju, Nayak Shalini S

Abstract excerpt

UNC50 encodes a transmembrane protein that plays a crucial role in L-acetylcholine receptor trafficking and thus cholinergic transmission at the neuromuscular junction. Previously, a biallelic loss-of-function variant in UNC50 was reported in an individual with lethal arthrogryposis multiplex congenita. We herein describe affected individuals from two unrelated families with arthrogryposis multiplex congenita in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40219868
DOI: 10.1002/ajmg.a.64086
PMCID: PMC7617616

Genes

UNC50

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome.PMID 40219868Read ↗

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