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Kearns—Sayre综合征一例

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摘要 线粒体脑肌病是一组线粒体功能异常的疾病,可导致骨骼肌、脑、心脏等脏器功能障碍,临床上可分为慢性进行性眼外肌瘫痪(CPEO)、Kearns-Sayre综合征(KSS)、线粒体脑肌病伴高乳酸血症和卒中样发作综合征和肌阵挛性癫痫伴肌肉破碎红纤维等类型。典型的KSS表现为CPEO、
出处 《中华心血管病杂志》 CAS CSCD 北大核心 2011年第4期369-369,共1页 Chinese Journal of Cardiology
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参考文献5

  • 1Kearns TP,Sayre GP.Retinitis pigmentosa,external ophthalmophegia,and complete heart block:unusual syndrome with histologic study in one of two cases.AMA Arch Ophthalmol,1958,60:280-289.
  • 2López-Gallardo E,López-Pérez MJ,Montoya J,et al.CPEO and KSS differ in the percentage and location of the mtDNA deletion.Mitochondrion,2009,9:314-317.
  • 3Young TJ,Shah AK,Lee MH,et al.Kearns-Sayre syndrome:a case report and review of cardiovascular complications.Pacing Clin Electrophysiol,2005,28:454-457.
  • 4Epstein AE,DiMarco JP,Ellenbogen KA,et al.ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities:a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices):developed in collaboration with the American Association for Thoracic Surgery and Society of Thoracic Surgeons.Circulation,2008,117:e350-e408.
  • 5Bernier FP,Boneh A,Dennett X,et al.Diagnostic criteria for respiratory chain disorders in adults and children.Neurology,2002.59:1406-1411.

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