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pro vyhledávání: '"Laurine Merriadec"'
Autor:
Susie Barbeau, Fannie Semprez, Alexandre Dobbertin, Laurine Merriadec, Florine Roussange, Bruno Eymard, Damien Sternberg, Emmanuel Fournier, Hanice Karasoy, Cécile Martinat, Claire Legay
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 22, p 16217 (2023)
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
Externí odkaz:
https://doaj.org/article/e7f159e19c9243138062de58468c06c4