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Article

Congenital myasthenic syndromes: current diagnostic and therapeutic approaches.

Neuropediatrics - 1 Aug 2012

Schara Ulrike, Della Marina Adela, Abicht Angela

Abstract excerpt

Congenital myasthenic syndromes (CMS) are rare genetically and clinically heterogeneous disorders characterized by an impaired neuromuscular transmission. Exact prevalence data are not available, approximately 2000 to 3000 patients worldwide have been diagnosed on a molecular level; mutations in 14 different genes are known to date leading to causal defects in presynaptic nerve terminal, synaptic cleft, and...

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PMID: 22911480
DOI: 10.1055/s-0032-1323850

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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