Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ

Congenital Myasthenic Syndromes (CMSs) are rare inherited diseases of the neuromuscular junction characterized by muscle weakness. CMSs with acetylcholinesterase deficiency are due to pathogenic variants in COLQ, a collagen that anchors the enzyme at the synapse. The two COLQ N-terminal domains have...

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Detalles Bibliográficos
Autores principales: Barbeau, Susie, Semprez, Fannie, Dobbertin, Alexandre, Merriadec, Laurine, Roussange, Florine, Eymard, Bruno, Sternberg, Damien, Fournier, Emmanuel, Karasoy, Hanice, Martinat, Cécile, Legay, Claire
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671321/
https://www.ncbi.nlm.nih.gov/pubmed/38003406
http://dx.doi.org/10.3390/ijms242216217

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671321/
https://www.ncbi.nlm.nih.gov/pubmed/38003406
http://dx.doi.org/10.3390/ijms242216217

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