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Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy

Mutations in PRKAG2, the gene for the γ2 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and electrophysiologic abnormalities, particularly preexcitation (Wolff-Parkinson-White syndrome) and atrioventricular conduction block. To understand the mechanisms by which PRKAG2...

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Publicat a:J Clin Invest
Autors principals: Arad, Michael, Benson, D. Woodrow, Perez-Atayde, Antonio R., McKenna, William J., Sparks, Elizabeth A., Kanter, Ronald J., McGarry, Kate, Seidman, J.G., Seidman, Christine E.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2002
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC150860/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11827995/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI14571
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