Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic Polymorphic Ventricular Tachycardia
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DOI：
10.1161/circep.111.962027
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发表时间：
2012-10-01
影响因子：
8.4
通讯作者：
Guicheney, Pascale
中科院分区：
文献类型：
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作者：
Leenhardt, Antoine;Denjoy, Isabelle;Guicheney, Pascale
RyR2与其他2种哺乳动物RyR亚型15共享接近70%：RyR1和RyR3。RyR1主要存在于骨骼肌中，在那里它直接被L型Ca2+通道激活（Cav1. 1)在骨骼肌收缩期间释放SR Ca2+商店。RYR1基因的突变导致各种肌肉疾病，如恶性高热或中央核心疾病。23
RyR2 shares close to 70% with 2 other mammalian RyR isoforms15: RyR1 and RyR3. RyR1 is predominantly found in skeletal muscle, where it is activated directly by the L-type Ca2+ channel (Cav1. 1) to release SR Ca2+ stores during skeletal muscle contraction. Mutations in the RYR1 gene cause various muscle disorders, such as malignant hyperthermia or central core diseases. 23