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Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.

Human mutation - 1 Oct 2012

Abicht Angela, Dusl Marina, Gallenmüller Constanze, Guergueltcheva Velina, Schara Ulrike, Della Marina Adele, Wibbeler Eva, Almaras Sybille, Mihaylova Violeta, von der Hagen Maja, Huebner Angela, Chaouch Amina, Müller Juliane S, Lochmüller Hanns

Abstract excerpt

Congenital myasthenic syndromes (CMSs) are clinically and genetically heterogeneous disorders characterized by a neuromuscular transmission defect. Even though CMSs are genetic disorders, they are highly treatable, and the appropriate drug treatment depends on the underlying genetic defect. This highlights the importance of genetic testing in CMS. In recent years, the molecular basis of CMS has constantly...

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PMID: 22678886
DOI: 10.1002/humu.22130

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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