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Article

Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.

Clinical genetics - 1 May 2026

Akçay Ayfer Arduç, Yunisova Gulshan, Avcı Şahin, Acarlı Ayşe Nur Özdağ, Kayserili Hülya, Oflazer Piraye

Abstract excerpt

Congenital myasthenic syndrome (CMS) refers to a rare heterogeneous group of hereditary disorders characterized by fatigue and muscle weakness due to impairment in neuromuscular transmission. A total of 40 genes have been identified in the pathogenesis of CMSs. The study assessed 22 patients (14 females and 8 males) with CMS of childhood onset with their phenotypes and genotypes. Genetic analysis revealed...

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Source

Identifiers

PMID: 41451794
DOI: 10.1111/cge.70127

Genes

CHRNE
DOK7
GFPT1
MUSK
SLC25A1
CHAT
COLQ
MYO9A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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