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Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome.

Neurogenetics - 26 Nov 2024

Ghasemi Aida, Hadei Seyed Jalaleddin, KamaliZonouzi Sara, Shahrokhi Amene, Najmabadi Hossein, Nafissi Shahriar

Abstract excerpt

Congenital myasthenic syndromes (CMSs) are genetic disorders affecting motor function with variable symptoms. RAPSN-related CMS, caused by mutations in the RAPSN gene, leads to muscle weakness. Accurate diagnosis is essential for proper management. This study aims to analyze six Iranian families affected by RAPSN-CMS, focusing on clinical manifestations, genetic variants, treatment response, and outcomes....

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PMID: 39589458
DOI: 10.1007/s10048-024-00787-3

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