The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein

Congenital myasthenic syndromes (CMSs) are caused by mutations in genes that encode proteins involved in the organization, maintenance, function, or modification of the neuromuscular junction. Among these, the collagenic tail of endplate acetylcholinesterase protein (COLQ; MIM 603033) has a crucial...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Genes (Basel)
Κύριοι συγγραφείς: Laforgia, Nicola, De Cosmo, Lucrezia, Palumbo, Orazio, Ranieri, Carlotta, Sesta, Michela, Capodiferro, Donatella, Pantaleo, Antonino, Iapicca, Pierluigi, Lastella, Patrizia, Capozza, Manuela, Schettini, Federico, Bukvic, Nenad, Bagnulo, Rosanna, Resta, Nicoletta
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: MDPI 2020
Θέματα:
Case Report
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7765904/
https://ncbi.nlm.nih.gov/pubmed/33353066
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11121519
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