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A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia

A 62-year-old female had suffered from recurrent syncopal episodes triggered by physical and emotional stress since childhood. She had no family history of sudden death. An intensive examination could not detect any structural disease, and exercise stress testing provoked polymorphic ventricular ect...

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Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Fujisawa, Taishi, Aizawa, Yoshiyasu, Katsumata, Yoshinori, Udo, Akihiro, Ito, Shogo, Hatakeyama, Kazumasa, Hirose, Makoto, Miyama, Hiroshi, Nakajima, Kazuaki, Nishiyama, Takahiko, Kimura, Takehiro, Nitta, Masamitsu, Misumi, Kazuo, Takatsuki, Seiji, Kosaki, Kenjiro, Fukuda, Keiichi
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6341267/
https://ncbi.nlm.nih.gov/pubmed/30729048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/9056596
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