肌肉无力反复发作的罕见病例 : Andersen - Tawil 综合征和 IXd 型糖原贮积病同时发生。
关键词: Andersen-Tawil syndrome Glycogen storage disease type IXd KCNJ2 Muscle pain Muscle weakness PHKA1
Mesh : Adult Andersen Syndrome / complications diagnosis Genetic Diseases, X-Linked / complications diagnosis Glycogen Storage Disease / complications diagnosis Humans Male Muscle Weakness / etiology Mutation
来 源:
DOI:10.1016/j.nmd.2020.06.006
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