A Cohort of Iranian Patients With Congenital Myasthenic Syndrome due to Glycosylation Defects
This study identifies novel variants and phenotypic variability in glycosylation-related CMS, with GFPT1 and GMPPB as the predominant subtypes in Iran. These findings expand the genotypic and phenotypic spectrum and underscore the importance of early genetic testing in high-consanguinity populations to improve diagnosis and management.
Authors
- Aida Ghasemi (ORCID: https://orcid.org/0000-0001-6386-7961)
- Ariana Kariminejad (ORCID: https://orcid.org/0000-0002-8467-4728)
- Mahtab Ramezani (ORCID: https://orcid.org/0000-0002-1148-3998)
- Shahriar Nafissi (ORCID: https://orcid.org/0000-0003-4763-4310)
- Bahram Haghi-Ashtiani (ORCID: https://orcid.org/0000-0002-3373-740X)
- Ali Asghar Okhovat (ORCID: https://orcid.org/0000-0002-9286-4943)
- Yalda Nilipour (ORCID: https://orcid.org/0000-0001-8671-0975)
- Payam Sarraf (ORCID: https://orcid.org/0000-0002-8386-5493)
Institutions
- Iran University of Medical Sciences (IR)
- Imam Khomeini Hospital (IR)
- Firoozgar General Hospital (IR)
- Research Institute for Endocrine Sciences (IR)
- Shariati Hospital (IR)
- Hospital Labbafinejad (IR)
- Shahid Beheshti University of Medical Sciences (IR)
- Tehran University of Medical Sciences (IR)
Publication Details
- Journal
- Muscle & Nerve
- Published
- 2025-11-28
- DOI
- https://doi.org/10.1002/mus.70083
- Primary Topic
- Myasthenia Gravis and Thymoma
- Type
- article
- Field-Weighted Citation Impact
- 0.00