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Article

Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.

Brain and behavior - 1 Feb 2022

Jiang Kaiyan, Zheng Yilei, Lin Jing, Wu Xiaorong, Yu Yanyan, Zhu Min, Fang Xin, Zhou Meihong, Li Xiaobing, Hong Daojun

Abstract excerpt

INTRODUCTION: Mutations in the GFPT1 gene are associated with a particular subtype of congenital myasthenia syndrome (CMS) called limb-girdle myasthenia with tubular aggregates. However, not all patients show tubular aggregates in muscle biopsy, suggesting the diversity of myopathology should be further investigated. METHODS: In this study, we reported two unrelated patients clinically characterized by easy...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34978387
DOI: 10.1002/brb3.2469
PMCID: PMC8865156

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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