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

• Asıl Yazarlar: Anita Sri (Yazar), Piers Daubeney (Yazar), Sanjay Prasad (Yazar), John Baksi (Yazar), Maria Kinali (Yazar), Inga Voges (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Hindawi Limited, 2019-01-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...