Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case

Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case

Glycogen storage disease type IIIa (GSD IIIa) is a rare etiology among patients with adult-onset myopathy, which is typically associated with axonopathy rather than demyelination. We report a genetically and pathologically confirmed case that exhibited prominent electrophysiological hallmarks of dem...

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Main Authors: Zhou Xiajun, Zhong Xingxing, Gao Mingshi, Yue Dongyue, Qiao Kai, Wang Min, Zhi Nan, Cao Wenwei, Han Lu, Lu Jiahong, Zhu Wenhua, Zhao Chongbo, Guan Yangtai
Format: Article
Language:English
Published: De Gruyter 2025-04-01
Series:Open Medicine
Subjects:
glycogen storage disease type iii
glycogen debranching enzyme system
demyelinating diseases
electrophysiology
Online Access:https://doi.org/10.1515/med-2025-1172
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