A Cohort of Iranian Patients With Congenital Myasthenic Syndrome due to Glycosylation Defects

20250 citationsJournal Articlebronze Open Access

Authors

Mahtab Ramezani · Shariati Hospital

Ali Asghar Okhovat · Shariati Hospital

Yalda Nilipour · Research Institute for Endocrine Sciences

Aida Ghasemi · Tehran University of Medical Sciences

Bahram Haghi-Ashtiani · Iran University of Medical Sciences

Payam Sarraf · Imam Khomeini Hospital

Ariana Kariminejad

Abstract

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.

Topics & Keywords

Myasthenia Gravis and Thymoma Glycosylation and Glycoproteins Research Genetic factors in colorectal cancer

Publication Details

Published in: Muscle & Nerve

Volume 73, Issue 2, pp. 240-249

DOI: 10.1002/mus.70083

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A Cohort of Iranian Patients With Congenital Myasthenic Syndrome due to Glycosylation Defects

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Abstract

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