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Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.

Pediatric neurology - 1 Nov 2022

Öztürk Selcan, Güleç Ayten, Erdoğan Murat, Demir Mikail, Canpolat Mehmet, Gümüş Hakan, Çağlayan Ahmet Okay, Dündar Munis, Per Hüseyin

Abstract excerpt

BACKGROUND: Congenital myasthenic syndromes (CMS) are composed of numerous hereditary disorders involving genetic mutations in proteins essential to the integrity of neuromuscular transmission. The symptoms of CMS vary according to the age at onset of symptoms, and the type and severity of muscle weakness. Effective treatment and genetic counseling depend upon the underlying pathogenic molecular mechanism and...

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PMID: 36099689
DOI: 10.1016/j.pediatrneurol.2022.08.001

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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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