A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations

BACKGROUND: PRKAG2 is a rare autosomal dominant syndrome that mainly presents with hypertrophic cardiomyopathy, ventricular preexcitation, and conduction abnormalities. This case report demonstrates that the PRKAG2 mutation presents with various phenotypes already in pediatric patients. CASE SUMMARY...

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Detalles Bibliográficos
Autores principales: Sri, Anita, Daubeney, Piers, Prasad, Sanjay, Baksi, John, Kinali, Maria, Voges, Inga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458885/
https://www.ncbi.nlm.nih.gov/pubmed/31049239
http://dx.doi.org/10.1155/2019/7640140

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458885/
https://www.ncbi.nlm.nih.gov/pubmed/31049239
http://dx.doi.org/10.1155/2019/7640140

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