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An unusual case of recurrent episodes of muscle weakness: Co-occurrence of Andersen-Tawil syndrome and glycogen storage disease type IXd.

Neuromuscular disorders : NMD - 1 Jul 2020

Li Honghao, Xue Yuan, Yu Jing, Guo Shougang, Liu Cuicui

Abstract excerpt

A 25-year-old male patient presented with periodic paralysis that increased in severity and frequency with age, accompanied with muscle pain and significantly elevated creatine kinase (CK) levels. Initial clinical and genetic examination confirmed Andersen-Tawil syndrome. Although his father carried the same genetic mutation (p.G300A), he experienced minor and infrequent attacks of paralysis. A change in the...

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PMID: 32660786
DOI: 10.1016/j.nmd.2020.06.006

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