New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome assoc...
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome
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Author / Creator
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 and Bauché, Stéphanie
Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
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...
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Full title
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome
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TN_cdi_doaj_primary_oai_doaj_org_article_7704d7209ba047b487d674e21efc12c8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7704d7209ba047b487d674e21efc12c8
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-023-41008-5
