常染色体显性遗传的家族性窦房结功能障碍。
Familial sinus node dysfunction with autosomal dominant inheritance.
作者信息
Lehmann H, Klein U E
出版信息
Br Heart J. 1978 Nov;40(11):1314-6. doi: 10.1136/hrt.40.11.1314.
Abstract
A large family with sinus node dysfunction is described, spanning three generations and with an autosomal dominant trait. There was an obvious association between the grade of mental retardation and the severity of the sinoatrial disorder.
摘要
本文描述了一个三代家族性窦房结功能障碍病例，其遗传特征为常染色体显性遗传。智力迟钝程度与窦房结疾病严重程度之间存在明显关联。
相似文献
1
Familial sinus node dysfunction with autosomal dominant inheritance.常染色体显性遗传的家族性窦房结功能障碍。
Br Heart J. 1978 Nov;40(11):1314-6. doi: 10.1136/hrt.40.11.1314.
2
Familial paroxysmal exercise-induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance.
Mov Disord. 2001 Jul;16(4):724-30. doi: 10.1002/mds.1117.
3
Autosomal dominant microcephaly without mental retardation.常染色体显性遗传性小头畸形且无智力障碍。
Am J Dis Child. 1987 Jun;141(6):655-9. doi: 10.1001/archpedi.1987.04460060071037.
4
Familial symptomatic sinus bradycardia: autosomal dominant inheritance.家族性症状性窦性心动过缓：常染色体显性遗传。
Pediatr Cardiol. 1995 Sep-Oct;16(5):231-4. doi: 10.1007/BF00795713.
5
Autosomal dominant inheritance of sinus node disease.窦房结疾病的常染色体显性遗传。
Int J Cardiol. 1987 May;15(2):252-6. doi: 10.1016/0167-5273(87)90324-x.
6
Familial 13p+ chromosome with mental retardation and dysmorphic features of two children.两名儿童患有伴有智力发育迟缓及畸形特征的家族性13号染色体三体。
Hum Genet. 1976 Sep 10;34(1):81-4. doi: 10.1007/BF00284441.
7
Orbital hypotelorism. An isolated autosomal dominant trait.眼眶距过窄。一种孤立的常染色体显性性状。
Arch Ophthalmol. 1984 Jul;102(7):995-7. doi: 10.1001/archopht.1984.01040030797019.
8
Familial neonatal and infantile seizures: an autosomal-dominant disorder.家族性新生儿和婴儿癫痫：一种常染色体显性疾病。
Am J Med Genet. 1984 Jul;18(3):455-9. doi: 10.1002/ajmg.1320180315.
9
Familial comedones. Evidence for autosomal dominant inheritance.家族性粉刺。常染色体显性遗传的证据。
Arch Dermatol. 1978 Dec;114(12):1807-9.
10
The cardio-facio-cutaneous (CFC) syndrome: autosomal dominant inheritance in a large family.
Genet Couns. 1992;3(1):19-24.
引用本文的文献
1
[Cardiogenetics in Germany- a view and review].[德国的心脏遗传学——观点与综述]
Herzschrittmacherther Elektrophysiol. 2024 Mar;35(Suppl 1):127-137. doi: 10.1007/s00399-024-01008-y. Epub 2024 Feb 28.
2
Functional role of voltage gated Ca(2+) channels in heart automaticity.电压门控Ca(2+)通道在心脏自律性中的功能作用。
Front Physiol. 2015 Feb 2;6:19. doi: 10.3389/fphys.2015.00019. eCollection 2015.
3
Pacemaker channel dysfunction in a patient with sinus node disease.一名窦房结疾病患者的起搏器通道功能障碍
J Clin Invest. 2003 May;111(10):1537-45. doi: 10.1172/JCI16387.
4
Two pacemaker channels from human heart with profoundly different activation kinetics.来自人类心脏的两种具有截然不同激活动力学的起搏器通道。
EMBO J. 1999 May 4;18(9):2323-9. doi: 10.1093/emboj/18.9.2323.
5
Familial idiopathic atrial fibrillation with bradyarrhythmia.
Eur J Pediatr. 1996 Jan;155(1):7-10. doi: 10.1007/BF02115617.
6
Familial symptomatic sinus bradycardia: autosomal dominant inheritance.家族性症状性窦性心动过缓：常染色体显性遗传。
Pediatr Cardiol. 1995 Sep-Oct;16(5):231-4. doi: 10.1007/BF00795713.
7
Sinuatrial disease in young people.年轻人的窦房结疾病。
Br Heart J. 1981 Jan;45(1):62-6. doi: 10.1136/hrt.45.1.62.
8
Sick sinus syndrome in childhood.儿童病窦综合征
Br Heart J. 1980 Dec;44(6):684-91. doi: 10.1136/hrt.44.6.684.
9
Familial sinus node disease and degenerative myopia--a new hereditary syndrome?家族性窦房结疾病与变性近视——一种新的遗传综合征？
Hum Genet. 1986 Feb;72(2):182-4. doi: 10.1007/BF00283944.
10
The mammalian sinoatrial node.哺乳动物的窦房结。
Cardiovasc Drugs Ther. 1988 Mar;1(6):573-97. doi: 10.1007/BF02125744.
本文引用的文献
1
CONGENITAL FAMILIAL CARDIAC CONDUCTION DEFECTS.先天性家族性心脏传导缺陷
Circulation. 1965 Jul;32:32-4. doi: 10.1161/01.cir.32.1.32.
2
FAMILIAL CONGENITAL A-V DISSOCIATION.家族性先天性房室分离
Am J Cardiol. 1964 Jul;14:118-24. doi: 10.1016/0002-9149(64)90116-x.
3
FAMILIAL ATRIAL FIBRILLATION.家族性心房颤动
Can Med Assoc J. 1963 Dec 21;89(25):1274-6.
4
Congenital familial nodal rhythm.先天性家族性结性心律
Circulation. 1960 Nov;22:887-95. doi: 10.1161/01.cir.22.5.887.
5
Congenital deafness and cardiac arrhythmias.先天性耳聋和心律失常。
Am J Cardiol. 1967 May;19(5):627-43. doi: 10.1016/0002-9149(67)90467-5.
6
Pacemaker therapy in sino-atrial block complicated by paroxysmal tachycardia.窦房阻滞合并阵发性心动过速时的起搏器治疗
Br Heart J. 1970 Jan;32(1):93-8. doi: 10.1136/hrt.32.1.93.
7
Familial sinus node disease.家族性窦房结疾病
Chest. 1971 Sep;60(3):246-51. doi: 10.1378/chest.60.3.246.
8
Familial sinuatrial disorder.家族性窦房结疾病
Br Heart J. 1972 Jul;34(7):668-70. doi: 10.1136/hrt.34.7.668.
9
Fatal familial cardiac arrhythmias. Histologic observations on the cardiac conduction system.致命性家族性心律失常。心脏传导系统的组织学观察。
Am J Cardiol. 1972 Apr;29(4):548-53. doi: 10.1016/0002-9149(72)90447-x.
10
Persistent atrial standstill in a family with myocardial dease.
Am J Med. 1969 Nov;47(5):775-84. doi: 10.1016/0002-9343(69)90170-3.
Zotero 插件