Article
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.
Genes - 18 Dec 2020
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
Abstract excerpt
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 role in anchoring the enzyme into the synaptic basal lamina. Here, we report on the first case of a patient with a...
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