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Found 4 publications

Congenital myasthenic syndrome related to SLC25A1 gene variant: two cases report and literature review.

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.

A late-onset congenital myasthenic syndrome due to a heterozygous DOK7 mutation.

Myasthenia Gravis and Congenital Myasthenic Syndromes.

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