Article

Missense mutations in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions

2023-12-19

Abstract excerpt

Congenital myasthenic syndrome-22 (CMS22) is a rare genetic disorder caused by mutations in the prolyl endopeptidase-like ( PREPL ) gene. Since previous reports only described patients with deletions and nonsense mutations in PREPL , nothing is known about the effect of missense mutations in the pathology of CMS22. In this study, we have characterized missense mutations in PREPL in three CMS22 patients, all wit...

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Literature Corpus work: c743ffcd-7761-519e-a03a-f3bfc3cdc8e5
DOI: 10.1101/2023.12.18.572145

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