Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation

Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation

Abstract 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 shoul...

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Bibliographic Details
Main Authors: Kaiyan Jiang, Yilei Zheng, Jing Lin, Xiaorong Wu, Yanyan Yu, Min Zhu, Xin Fang, Meihong Zhou, Xiaobing Li, Daojun Hong
Format: Article
Language:English
Published: Wiley 2022-02-01
Series:Brain and Behavior
Subjects:
congenital myasthenia syndrome
glutamine‐fructose‐6‐phosphate transaminase 1
myopathological changes
tubular aggregates
Online Access:https://doi.org/10.1002/brb3.2469

Internet

https://doi.org/10.1002/brb3.2469

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