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

• Main Authors: Anita Sri (Author), Piers Daubeney (Author), Sanjay Prasad (Author), John Baksi (Author), Maria Kinali (Author), Inga Voges (Author)
• פורמט: ספר
• יצא לאור: Hindawi Limited, 2019-01-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

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...