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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Vydáno v:Genes (Basel)
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
Témata:
Case Report
On-line přístup: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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