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Author

Nevra Öksüz

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Open access Sep 2026

Late-diagnosed congenital myasthenic syndrome due to a CHRNE mutation: a case report

Congenital myasthenic syndromes (CMS) comprise a heterogeneous group of inherited disorders caused by genetic defects affecting neuromuscular junction transmission. Clinical manifestations range from isolated ocular symptoms to severe neonatal respiratory insufficiency. Despite symptom onset early in life, CMS is frequ...

Pelin Yenilmez Yeşildaş, Nevra Öksüz · 0 citations

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