Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review
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DOI: 10.3390/ijms24043730
Abstract: Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). A total of 35 genes have… read more here.
Keywords: clinical pathologic; pathologic features; review; congenital myasthenic ... See more keywords