Controversial molecular functions of CBS versus non‐CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review

BACKGROUND: PRKAG2 cardiac syndrome is a rare autosomal dominant genetic disorder caused by a PRKAG2 gene variant. There are several major adverse cardiac presentations, including hypertrophic cardiomyopathy (HCM) and life‐threatening arrhythmia. Two cases with pathogenic variants in the PRKAG2 gene...

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Detalles Bibliográficos
Autores principales: Gong, Xue, Yu, Peiyu, Wu, Ting, He, Yunru, Zhou, Kaiyu, Hua, Yimin, Lin, Sha, Wang, Tao, Huang, He, Li, Yifei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266596/
https://www.ncbi.nlm.nih.gov/pubmed/35588295
http://dx.doi.org/10.1002/mgg3.1962

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