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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.… Click to show full abstract
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 are reported here who presents different cardiac phenotypes.
Keywords:
controversial molecular;
cbs versus;
variants prkag2;
versus non;
functions cbs;
molecular functions
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
Link to full text (if available)
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recommendations!