Human cardiac ryanodine receptor mutations in ion channel disorders in Japan

International Journal of Cardiology

Volumn 116, Issue 2, 2007, Pages 263-265

  Aizawa, Yoshiyasu ^a   Mitsuma, Wataru ^a   Ikrar, Taruna ^a   Komura, Satoru ^a   Hanawa, Haruo ^a   Miyajima, Seiichi ^a   Miyoshi, Fumito ^b   Kobayashi, Youichi ^b   Chinushi, Masaomi ^a   Kimura, Akinori ^c   Hiraoka, Masayasu ^c   Aizawa, Yoshifusa ^a  

^a NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^b SHOWA UNIVERSITY   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Calcium channel; Delayed after depolarization; Mutation; Sudden death; Ventricular tachycardia

Indexed keywords

RYANODINE RECEPTOR 2;

ADULT; ARTICLE; BRUGADA SYNDROME; CARDIAC CHANNELOPATHY; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CONTROLLED STUDY; FAMILY; FEMALE; GENE MUTATION; GENETIC SCREENING; HEART RIGHT VENTRICLE DYSPLASIA; HEART VENTRICLE FIBRILLATION; HUMAN; JAPAN; JAPANESE; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; PREVALENCE; PRIORITY JOURNAL;

ARRHYTHMIA; ASIAN CONTINENTAL ANCESTRY GROUP; HUMANS; ION CHANNELS; MYOCARDIUM; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 33846915313     PISSN: 01675273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijcard.2006.02.024     Document Type: Article

References (4)

1. Priori S.G., Napolitano C., Tiso N., et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 103 2 (Jan 16 2001) 196-200
2. Laitinen P.J., Brown K.M., Piippo K., et al. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 103 4 (Jan 30 2001) 485-490
3. Aizawa Y., Ueda K., Komura S., et al. A novel mutation in FKBP12.6 binding region of the human cardiac ryanodine receptor gene (R2401H) in a Japanese patient with catecholaminergic polymorphic ventricular tachycardia. Int J Cardiol 99 2 (Mar 18 2005) 343-345
4. Wehrens X.H., Lehnart S.E., Huang F., et al. FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. Cell 113 7 (Jun 27 2003) 829-840