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We report a genetically and pathologically confirmed case that exhibited prominent electrophysiological hallmarks of demyelination, including prolonged distal motor latency, temporal dispersion, prolonged F-waves, and conduction block. The presence of these diverse demyelinating characteristics in this context, excluding other factors, is infrequently reported, suggesting that glycogen accumulation may influence not only muscles but also potentially the myelin, thereby broadening our comprehension of this rare disease spectrum.<\/jats:p>","DOI":"10.1515\/med-2025-1172","type":"journal-article","created":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T04:58:42Z","timestamp":1745902722000},"source":"Crossref","is-referenced-by-count":0,"title":["Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case"],"prefix":"10.1515","volume":"20","author":[{"given":"Xiajun","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine , Shanghai , 200127 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xingxing","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Neurology, Northern Jiangsu People\u2019s Hospital Affiliated to Yangzhou University , Jiangsu, 225000 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingshi","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Pathology, Huashan Hospital, Fudan University , Shanghai , 200040 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongyue","family":"Yue","sequence":"additional","affiliation":[{"name":"Department of Neurology, Jing\u2019an District Center Hospital , Shanghai , 200040 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Qiao","sequence":"additional","affiliation":[{"name":"Department of Neurology, and Huashan Rare Disease Center, Huashan Hospital, Fudan University, National Center for Neurological Disorders (NCND) , Shanghai , 200040 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine , Shanghai , 200127 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nan","family":"Zhi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine , Shanghai , 200127 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenwei","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine , Shanghai , 200127 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine , Shanghai , 200127 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiahong","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Neurology, and Huashan Rare Disease Center, Huashan Hospital, Fudan University, National Center for Neurological Disorders (NCND) , Shanghai , 200040 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenhua","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Neurology, and Huashan Rare Disease Center, Huashan Hospital, Fudan University, National Center for Neurological Disorders (NCND) , Shanghai , 200040 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chongbo","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neurology, and Huashan Rare Disease Center, Huashan Hospital, Fudan University, National Center for Neurological Disorders (NCND) , Shanghai , 200040 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0813-4073","authenticated-orcid":false,"given":"Yangtai","family":"Guan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine , Shanghai , 200127 , China"},{"name":"Department of Neurology, Punan Branch of Renji Hospital, Shanghai Jiaotong University School of Medicine (Punan Hospital in Pudong new district) , Renji Hospital, 279 Linyi Rd. , Shanghai , 200125 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,4,29]]},"reference":[{"key":"2025122201303470032_j_med-2025-1172_ref_001","doi-asserted-by":"crossref","unstructured":"Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, et al. 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