Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.
Abiusi E, D'Alessandro M, Dieterich K, Quevarec L, Turczynski S, Valfort AC, Mezin P, Jouk PS, Gut M, Gut I, et al. Hum Mol Genet. 2017 Oct 15; 26(20):3989-3994.