Article
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Scientific reports - 28 Aug 2023
Masingue Marion, Cattaneo Olivia, Wolff Nicolas, Buon Céline, Sternberg Damien, Euchparmakian Morgane, Boex Myriam, Behin Anthony, Mamchaouhi Kamel, Maisonobe Thierry, Nougues Marie-Christine, Isapof Arnaud, Fontaine Bertrand, Messéant Julien, Eymard Bruno, Strochlic Laure, Bauché Stéphanie
Abstract excerpt
Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of rare diseases due to mutations in neuromuscular junction (NMJ) protein-coding genes. Until now, many mutations encoding postsynaptic proteins as Agrin, MuSK and LRP4 have been identified as responsible for increasingly complex CMS phenotypes. The majority of mutations identified in LRP4 gene causes bone diseases...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.