Title: Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.
Authors: Abiusi E, D'Alessandro M, Dieterich K, Quevarec L, Turczynski S, Valfort AC, Mezin P, Jouk PS, Gut M, Gut I, Bessereau JL, Melki J
Journal: Hum Mol Genet
Published: 2017-10-15
Volume: 26
Pages: 3989-3994