Article

Gene-specific response to MuSK agonist antibody in the treatment of Congenital Myasthenic Syndromes

2025-08-30

Abstract excerpt

Congenital myasthenic syndromes (CMS) are a group of rare disorders characterized by fatigable muscle weakness and caused by impaired neuromuscular junction (NMJ) function. CMS symptoms are highly variable, but can be detrimental and lead to death. There are over 40 different genetic subtypes, including Agrn- CMS and ColQ- CMS. Agrn encodes for neural AGRIN, which is released from the nerve terminal and trigger...

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Literature Corpus work: 5878781f-fdcd-5c0d-9c23-de6f56d2fec8
DOI: 10.1101/2025.08.29.673058

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