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Autor:
Oana Caluseriu, Denis Arutyunov, Hanna Kolski, Atilano Lacson, Daniel Brandwein, Elaine M. Leslie, Cassandra Janetzki‐Flatt, Monica Baradi, Norma Leonard, Stacey Hume, Emmanuelle Cordat, Mayukh Banerjee, James Watt
Publikováno v:
Human mutation. 40(10)
A subset of a larger and heterogeneous class of disorders, the congenital myasthenic syndromes (CMS) are caused by pathogenic variants in genes encoding proteins that support the integrity and function of the neuromuscular junction (NMJ). A central c