Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.
Update on polyglucosan storage diseases.
Cenacchi G et al.
Virchows Archiv : an International Journal of Pathology, 2019
Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis.
Gorla SR et al.
Journal of Pediatric Genetics, 2018
The PRKAG2 gene and hypertrophic cardiomyopathy: an energetically imbalanced relationship.
Calore M
American Journal of Physiology. Heart and Circulatory Physiology, 2017
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.
Austin SL et al.
Molecular Genetics and Metabolism, 0
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