Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome
Biochim Biophys Acta Mol Basis Dis. 2024 Apr 14:167175. doi: 10.1016/j.bbadis.2024.167175. Online ahead of print. ABSTRACT Loss of prolyl endopeptidase-like (PREPL) encoding a serine hydrolase …