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

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

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Biochemistry, Genetics and Molecular Biology