CASQ2

Marina Raffaele di Barletta1, Serge Viatchenko-Karpinski, Alessandra Nori

  • 1Molecular Cardiology, IRCCS Fondazione Maugeri, University of Pavia, Via Ferrata 8 27100, Pavia, Italy.

Circulation
|August 16, 2006
PubMed
まとめ

カルセクストリン遺伝子 (CASQ2) の2つの新しい突然変異が,カテコロアミナージックポリモルフィック心室動脈低血圧症 (CPVT) の小児で確認されました. これらの突然変異は,細胞内カルシウム調節を妨害し,危険な心律を引き起こします.

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