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PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis

Mutations in PRKAG2 gene that regulates the γ2 subunit of the adenosine monophosphate (AMP) dependent protein kinase have been associated with the development of atrioventricular (AV) accessory pathways, cardiac hypertrophy, and conduction system abnormalities. These patients can potentially be misd...

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Detalles Bibliográficos
Autores principales: Aggarwal, Varun, Dobrolet, Nancy, Fishberger, Steven, Zablah, Jenny, Jayakar, Parul, Ammous, Zineb
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4453188/
https://www.ncbi.nlm.nih.gov/pubmed/26085771
http://dx.doi.org/10.4103/0974-2069.154149