450
Views
11
CrossRef citations to date
0
Altmetric
Case Series

Kearns–Sayre syndrome: a case series of 35 adults and children

, , &
Pages 325-332 | Published online: 03 Jul 2014

References

  • KearnsTPSayreGPRetinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two casesAMA Arch Ophthalmol195860228028913558799
  • DiMauroSHiranoMMitochondrial DNA deletion syndromes; 2003 [updated May 3, 2011]PagonRAAdamMPArdingerHHGeneReviews® [Internet]Seattle, WAUniversity of Washington, Seattle19932014 Available from: http://www.ncbi.nlm.nih.gov/books/NBK1203/Accessed May 25, 2014
  • BerardoADiMauroSHiranoMA diagnostic algorithm for metabolic myopathiesCurr Neurol Neurosci Rep201010211812620425236
  • RowlandLPHaysAPDiMauroSDe VivoDCBehrensMDiverse clinical disorders associated with morphological abnormalities in mitochondriaScarlatoGCerriCMitochondrial Pathology in Muscle Diseases: Proceedings of the Satellite Symposium of the 5th International Congress on Neuromuscular DiseasesPaduaPiccin Medical Books1983141158
  • OgasaharaSNishikawaYYorifujiSTreatment of Kearns–Sayre syndrome with coenzyme Q10Neurology198636145533941783
  • EpsteinAEDiMarcoJPEllenbogenKAAmerican 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)American Association for Thoracic SurgerySociety of Thoracic SurgeonsACC/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 SurgeonsCirculation200811721e350e40818483207
  • KornblumCBroicherRWaltherECricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletionsNeurology200156101409141211376201
  • GrönlundMAHonarvarAKAnderssonSOphthalmological findings in children and young adults with genetically verified mitochondrial diseaseBr J Ophthalmol201094112112720385529
  • LimongelliGTome-EstebanMDejthevapornCRahmanSHannaMGElliottPMPrevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain diseaseEur J Heart Fail201012211412120083621
  • YamashitaSNishinoINonakaIGotoYGenotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletionsJ Hum Genet200853759860618414780
  • PakomovSVBuntrockJDChuteCGAutomating the assignment of diagnosis codes to patient encounters using example-based and machine learning techniquesJ Am Med Inform Assoc200613551652516799125
  • KurtzkeJFRating neurologic impairment in multiple sclerosis: an expanded disability status scale (EDSS)Neurology19833311144414526685237
  • IsashikiYNakagawaMOhbaNRetinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutationActa Ophthalmol Scand1998766139541428
  • CharlesRHoltSKayJMEpsteinEJReesJRMyocardial ultrastructure and the development of atrioventricular block in Kearns–Sayre syndromeCirculation19816312142197438396
  • HiranoMDavidsonMDiMauroSMitochondria and heart diseaseCurrent Opinion in Cardiology200116320121011357017
  • AndreuALHannaMGReichmannHExercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNAN Engl J Med1999341141037104410502593
  • ZipesDPWellensHJSudden cardiac deathCirculation19989821233423519826323
  • FinstererJHematological manifestations of primary mitochondrial disordersActa Haematol20071182889817637511
  • HarveyJNBarnettDEndocrine dysfunction in Kearns–Sayre syndromeClin Endocrinol (Oxf)1992371971031424198
  • ZevianiMMoraesCTDiMauroSDeletions of mitochondrial DNA in Kearns–Sayre syndromeNeurology1988389133913463412580
  • RowlandLPHausmanowa-PetrusewiczIBardurskaBKearns–Sayre syndrome in twins: lethal dominant mutation or acquired disease?Neurology1988389139914023412586
  • DrachmanDAOphthalmoplegia plus. The neurodegenerative disorders associated with progressive external opthalmoplegiaArch Neurol19681866546745652994
  • SarnatHBMarín-GarciaJPathology of mitochondrial encephalomyopathiesCan J Neurol Sci200532215216616018150
  • Alvarez-FischerDFuchsJCastagnerFEngrailed protects mouse midbrain dopaminergic neurons against mitochondrial complex I insultsNat Neurosci201114101260126621892157
  • Marin-GarciaJGoldenthalMJSarnatHBKearns–Sayre syndrome with a novel mitochondrial DNA deletionJ Child Neurol200015855555810961796
  • Marín-GarcíaJGoldenthalMJFlores-SarnatLSarnatHBSevere mitochondrial cytopathy with complete A-V block, PEO, and mtDNA deletionsPediatr Neurol200227321321612393131
  • RodenburgRJBiochemical diagnosis of mitochondrial disordersJ Inherit Metab Dis201134228329220440652