Hypertrophic cardiomyopathy phenocopy (PRKAG2 syndrome) due to p.Arg302Gln mutation

Med Clin (Barc). 2022 Apr 8;158(7):340-341. doi: 10.1016/j.medcli.2021.07.026. Epub 2021 Oct 13.

[Article in English, Spanish]

Authors

Julia Rodríguez Ortuño¹, María Luisa Peña Peña², José Eduardo López Haldón²

Affiliations

¹ Departamento de Cardiología, Hospital Universitario Virgen del Rocío, Sevilla, España. Electronic address: julia.roort@gmail.com.
² Departamento de Cardiología, Hospital Universitario Virgen del Rocío, Sevilla, España.

PMID: 34656342
DOI: 10.1016/j.medcli.2021.07.026

No abstract available

Publication types

Case Reports

MeSH terms

AMP-Activated Protein Kinases / genetics
Cardiomyopathy, Hypertrophic* / diagnosis
Cardiomyopathy, Hypertrophic* / genetics
Humans
Mutation
Phenotype

Substances

PRKAG2 protein, human
AMP-Activated Protein Kinases