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Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.

Human molecular genetics - 15 Oct 2017

Abiusi Emanuela, D'Alessandro Manuela, Dieterich Klaus, Quevarec Loic, Turczynski Sandrina, Valfort Aurore-Cecile, Mezin Paulette, Jouk Pierre Simon, Gut Marta, Gut Ivo, Bessereau Jean Louis, Melki Judith

Abstract excerpt

Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Homozygosity mapping of disease loci combined with whole exome sequencing in a consanguineous family presenting with lethal AMC allowed the identification of a homozygous frameshift deletion in UNC50 gene (c.750_751del:p.Cys251Phefs*4) in the index...

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Source

Identifiers

PMID: 29016857
DOI: 10.1093/hmg/ddx288

Genes

UNC50

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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