41. ATE Responses I was diagnosed a year ago through a muscle biopsy and genetic testing with KearnsSayresyndrome (KSS) chronic progressive external ophthalmoplegia (CPEO). http://www.mdausa.org/experts/viewall.cfm?id=115

42. ATE Responses I first showed signs of chronic progressive external ophthalmoplegia (CPEO) whenI was 21, but didn t have a confirming biopsy until age 34, five years ago. http://www.mdausa.org/experts/question.cfm?id=2216

43. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Ophthalmoplegia,+Chronic+Progressive+Ext Medline record 95071352Title chronic progressive external ophthalmoplegia is associated witha novel mutation in the mitochondrial tRNA(Asn) gene. Author http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Ophthalmoplegia, Chronic Progress

44. Medline Record 90293730 In 13/21 patients with chronic progressive external ophthalmoplegiathe muscle mitochondrial DNA was shown to be heteroplasmic. http://www.aeiveos.com/Aging/Authors/muller-hocker-j/90293730.html

Title: Mutations of the mitochondrial DNA: the contribution of DNA techniques to the diagnosis of mitochondrial encephalomyopathies. Author(s): Gerbitz KD; Obermaier-Kusser B; Lestienne P; Zierz S; Muller-Hocker J; Pongratz D; Paetzke-Brunner I; Deufel T Address: Institut fur Klinische Chemie, Krankenhaus Schwabing, Munchen, Germany. Source: J Clin Chem Clin Biochem 1990 Apr;28(4):241-50 Abstract: Major Indexes: Brain Diseases, Metabolic [diagnosis] DNA, Mitochondrial [genetics] Leigh Disease [diagnosis] Muscular Diseases [diagnosis] Minor Indexes: Adult Aged Biopsy Blotting, Southern Cells, Cultured Cytochrome-c Oxidase [genetics] [metabolism] Fibroblasts [physiology] Genomic Library Kearns Syndrome [diagnosis] [genetics] Leigh Disease [genetics] Middle Age Mitochondria, Muscle [physiology] Muscles [pathology] Muscular Diseases [genetics] Mutation NADH Dehydrogenase [genetics] [metabolism] Ophthalmoplegia [diagnosis] [genetics] Restriction Mapping Succinate Cytochrome c Oxidoreductase [genetics] [metabolism] Reagent Names: EC 1.- (Succinate Cytochrome c Oxidoreductase)

45. MELAS Syndrome ear (sensorineural hearing loss) and, in 10 percent of cases, progressive paralysisof certain eye muscles (chronic progressive external ophthalmoplegia). http://www.bchealthguide.org/kbase/nord/nord962.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord962"; var hwDocTitle="MELAS Syndrome"; var hwRank="1"; var hwSectionHWID="nord962"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. MELAS Syndrome Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, Stroke-Like Episod Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Kearns-Sayre syndrome MERRF syndrome Leigh's disease General Discussion Symptoms The distinguishing feature in MELAS syndrome is the recurrence of stroke-like symptoms. Episodes of sudden headaches with vomiting and seizures may begin any time between the ages of five and 40 years. In approximately 80 percent of cases, onset of the disorder is before the age of 20 years. Symptoms and physical findings associated with MELAS syndrome vary greatly from case to case. Muscle weakness on one side of the body (hemiparesis), blindness due to lesions in the area of the brain concerned with vision (cortical blindness), and/or impaired vision or blindness in one half of the visual field (hemianopsia) may also occur. Affected individuals may also experience progressive hearing impairment due to malfunction of the inner ear (sensorineural hearing loss) and, in 10 percent of cases, progressive paralysis of certain eye muscles (chronic progressive external ophthalmoplegia). In rare cases, muscle weakness and stiffness may result in an abnormal intolerance to exercise.

46. Publikationen R, Laube H, Laube H, Linn T, Pabst W, Damian MS, Impaired glucose effectivenessin chronic progressive external ophthalmoplegia, Metabolism 51 796800, 2002. http://www.uniklinikum-giessen.de/cru/Publik.html

Sitemap Hilfe QuickLinks Email-Adressen FB Medizin Infosystem SiteDesigner Speiseplan Suche Telefonbuch in Telefonbuch Webseiten Email-Adressen Publikationen Klinische Forschungs - einheit Ziele Studien/Projekte Partner ... Clinical Research Lab Linn TH, Romann D, Voges S, Federlin K, Abdominal testis transplantation prevents rejection of islet isografts in low dose streptozotocin included diabetes, Transplantation Proceedings 24: 998, 1992 Linn TH, Loewk E, Schneider K, Federlin K, Spontaneous glucose intolerance in the progeny of low dose streptozotocin induced diabetic mice, Diabetologia 36 1245-51, 1993 Linn TH, Strate C, Federlin K, Papaccio G, Intercellular adhesion molecule 1 (ICAM 1) expression in the islets of non-obese diabetic and low-dose streptozotocin-treated mouse, Histochemistry 102: 317-21, 1994 Linn TH, Ebener K, Raptis G, Laube H, Federlin K, Natural course of insulin sensitivity and insulin reserve in early insulin-dependent diabetes mellitus, Metabolism 44: 617-23, 1995

47. 1. Introduction tRNALys? ?, tRNALeu(UUR)? ?. 4. (chronic progressive external ophthalmoplegia). http://brain.bri.niigata-u.ac.jp/~stsuji/resrc/disease/muscle/cpeo/cpeo.htm

1. Introduction ƒ~ƒgƒRƒ“ƒhƒŠƒA”]‹ØÇ‚ÌŠT”O ƒ~ƒgƒRƒ“ƒhƒŠƒAƒ~ƒIƒpƒ`[‚Ƃ͍œŠi‹Ø“à‚ɈُíŒ`‘Ô‚ðŽ¦‚·ƒ~ƒgƒRƒ“ƒhƒŠƒA‚ª‘½””F‚ß‚ç‚ê‚鎾Š³‚Å‚ ‚éDƒGƒlƒ‹ƒM[Žù—v‚ª‘å‚«‚¢‘ŸŠíi‹ØC’†•‚¨‚æ‚Ñ––½_ŒoŒnCSCtj‚𒆐S‚É‘½‘ŸŠí‚ª–«‚©‚is«‚ɐN‚³‚êCƒ~ƒIƒpƒ`[C’†•_ŒoÇó‚ð‚Í‚¶‚ß‚Æ‚µ‚āC‘½Ê‚ȗՏ°Çó‚ð’æ‚·‚邱‚Æ‚©‚çCƒ~ƒgƒRƒ“ƒhƒŠƒA”]‹ØÇ‚Æ‚¢‚¤–¼‚Å‘Ì‚³‚ê‚éD @ ƒ~ƒgƒRƒ“ƒhƒŠƒA ^Šj¶•¨ ƒ~ƒgƒRƒ“ƒhƒŠƒA”]‹ØÇ‚Ì•ª—ށ@ –«is«ŠOŠá‹Ø–ƒáƒ(chronic progressive external ophthalmoplegia) Kearns-SayreÇŒóŒQ‚́CŠOŠá‹Ø–ƒáƒ‚ɉÁ‚¦C–Ô–ŒF‘f•Ï¬CS“`“±ƒuƒƒbƒN‚Ì3Žå’¥‚ð’æ‚·‚é‚à‚̂ŁCCPEOŠÜ‚Ü‚ê‚éD ragged-red fiber‚𔺂¤ƒ~ƒIƒNƒ[ƒkƒX‚Ä‚ñ‚©‚ñ (MERRFF; myoclonus epilepsy associated with ragged-red fibers) ‘²’†—lÇó‚𔺂¤ƒ~ƒgƒRƒ“ƒhƒŠƒA•a (MELAS: mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode) Leber•a (Leber's hereditary optic neuropathy) “dŽq“`’BŒnˆÙí •¡‡‘Ì I Œ‡‘¹ •¡‡‘Ì II Œ‡‘¹ •¡‡‘Ì III Œ‡‘¹ •¡‡‘ÌIVŒ‡‘¹ “œ”A•a/“ï’® 7. Pearson•a 8. ƒ~ƒgƒRƒ“ƒhƒŠƒADNAŒ‡–RÇ@ –«‚ÌŒo‰ß‚ð‚Æ‚éƒ~ƒIƒpƒ`[‚Ì‘¶ÝC’ág’·CÇ—á‚É‚æ‚Á‚ẮCŠOŠá‹Ø–ƒáƒ (CPEO)C ˆâ“`Šw“I‚È–Ê‚©‚ç‚́CMERRF, MELAS, Leber•a‚ɂ‚¢‚Ä‚Í•êŒnˆâ“`‚ªl‚¦‚ç‚ê‚ê‚΋­‚­‹^‚¤DCPEO‚ɂ‚¢‚ẮCŒÇ”­—Ⴊ‘½‚¢D‚Ü‚ê‚ɁCíõF‘Ì—D«ˆâ“`«‚Ì‚à‚Ì‚à‚ ‚éiŠj‚̃Qƒmƒ€DNA (íõF‘Ì) ã‚̈â“`ŽqˆÙí‚ÌŒ‹‰Êƒ~ƒgƒRƒ“ƒhƒŠƒADNA‚É‘½dŒ‡Ž¸‚ª¶‚¶‚â‚·‚­‚È‚é‚ƍl‚¦‚ç‚ê‚éj @

48. CMGS-Mitochondrial Disease And Its Molecular Analysis/16.1.98 deletions in 1989 showed the following Deletions were found in 78% of KearnsSayrepatients, 56% of chronic progressive external ophthalmoplegia-plus patients http://www.ich.ucl.ac.uk/cmgs/mitodis.htm

Mitochondrial disease and its molecular analysis Mitochondrial DNA The first mutations in mitochondrial DNA were discovered in 1988 and since that time a great deal of knowledge has accumulated on mitochondrial disorders. Mitochondrial DNA encodes 13 polypeptides which are integral components of mitochondrial respiratory chain essential for aerobic metabolism. In addition, mitochondrial DNA encodes 22 transfer RNA's and 2 ribosomal RNAs used in mitochondrial protein synthesis. Mitochondrial phenotypes are caused by gross structural rearrangements (single deletions, multiple deletions or duplications) or point mutations in the mitochondrial DNA. Mutations with potential to cause lethal impairment of oxidative phosphorylation (gross structural rearrangements or point mutations in critical regions) are viable only if they are heteroplasmic ( that is, the cells contain both wild type and mutant mitochondrial DNA). The majority of milder missense mutations in protein coding regions are heteroplasmic. Homoplasmy is the presence of completely mutant or completely normal mitochondrial DNA. Mitochondrial Diseases Organs highly dependent on oxidative phosphorylation such as nervous system and heart are most vulnerable to mutations in mitochondrial DNA. Some of the principal mitochondrial disorders are summarised below although there are numerous variants and subgroups known.

49. Untitled Document SLC25A4, A44778, YBR085W, not measured, chronic progressive external ophthalmoplegia,type III (CPEO3);Mitochondrial myopathy and cardiomyopathy (MiMyCa). http://www-deletion.stanford.edu/YDPM/mtdisease_yeasthomolog.html

Web Table B. Yeast orthologs to known human mitochondrial disease genes gene name protein ID yeast ortholog homozygous deletion disease class III Wilson disease (WD) BCKDHA DEHUXA class III Maple syrup urine disease (MSUD) BCKDHB class III Maple syrup urine disease (MSUD) class III Tubulopathy, encephalopathy, and liver failure due to CIII deficiency class III Deficiency of complex IV DBT class III Maple syrup urine disease (MSUD) DLD DEHULP class III Dihydrolipoamide dehydrogenase deficiency;Leigh syndrome FH UFHUM class III Deficiency of fumarate hydratase GCSH GCHUH class III Non-ketotic hyperglycinemia, type III (NKH3) HHH class III Deficiency of ornithine translocase class III Deficiency of MTHFD1 DEHUPA class III Pyruvate dehydrogenase deficiency;Leigh syndrome class III Pyruvate dehydrogenase deficiency POLG class III Progressive external ophthalmoplegia with mitochondrial DNA deletions (PEO); Involved in male infertility (MI)

50. KoreaMed - Basic Search English. Click here to read chronic progressive external ophthalmoplegia (CPEO)with ragged red fibers a case report. Kim JS, Kim CJ, Chi JG, Myung HJ. http://www.koreamed.org/SearchBasic.php?RID=89833&DT=1&QY=J Korean Med Sci [JTI

51. NEJM -- Mitochondrial DNA Deletions In Progressive External Ophthalmoplegia And Zeviani, M. (2000). Ultrastructural Analysis of Extraocular Muscle inchronic progressive external ophthalmoplegia. Arch Ophthalmol 118 http://content.nejm.org/cgi/content/short/320/20/1293

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Volume 320:1293-1299 May 18, 1989 Number 20 Next Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome CT Moraes, S DiMauro, M Zeviani, A Lombes, S Shanske, AF Miranda, H Nakase, E Bonilla, LC Werneck, S Servidei, and et al. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract Source Information H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia-Presbyterian Medical Center, New York, NY 10032. This article has been cited by other articles: KWON, S.-J., PARK, S.-S., KIM, J.-M., AHN, T.-B., KIM, S. H., KIM, J., LEE, S.-H., HA, C.-K., AHN, M.-Y., JEON, B. S. (2004). Investigation of Common Mitochondrial Point Mutations in Korea. Annals NYAS Online [Abstract] [Full Text] GUAN, M.-X. (2004). Molecular Pathogenetic Mechanism of Maternally Inherited Deafness. Annals NYAS Online [Abstract] [Full Text] Blakely, E L, He, L, Taylor, R W, Chinnery, P F, Lightowlers, R N, Schaefer, A M, Turnbull, D M (2004). Mitochondrial DNA deletion in "identical" twin brothers.

52. (myopathies) CPEOchronic progressive external ophthalmoplegia, MELASmitochondrial myopathy,encephalopathy,lacticacidosis,and strokelike episodes, MERRFmyoclonus http://www.ncnp.go.jp/hospital/news/kin250.htm

$B-6(B.$B6Z86@- <@45!J(Bmyopathies$B!K(B $B#1#3!%(B $B%_%H%3%s%I%j%"IB(B $B!J(Bmitochondrial diseases) $B!!%_%H%3%s%I%j%"$O%(%M%k%.! .4o41$G$9!#%_%H%3%s%I%j%"$O$h$/ o$r$-$?$9$H!"BgNL$N%(%M%k%.! <#7#0!s$O0J2 >I!"%A%H%/%m! >I$NNW>2E*$^$H$a$rI=#6$K <($7$^$7$?!#(B $BIB!!7?(B $B#C#P#E#O(B $B#M#E#L#A#S(B $B!J%a%i%9!K(B $B#M#E#R#R#F(B $B!J%^! <%U!K(B $B#L#e#i#g#hG>>I(B $B!J%j! >I!K(B $B2HB2Nr!JJl7O0dEA!K(B $B!](B $BH/>IG/Np(B $B>.;y!A(B70$B:P(B 2$B!A(B15$B:P(B $B>.;y!A(B40$B:P(B $BNW(B $B>2(B $B>I(B $B>u(B $BDc?HD9(B $BCNG=Dc2 <(B <(B $B462;@-FqD0(B $B $BHi $Ba[Z;(B $B%_%*%/%m! <%L%9(B $B>.G> <:D4(B $B304c6ZKcac(B $BLVKl?'AGJQ@-(B $B?4EAF3>c32(B $B!]!A!^(B $B!](B $B!](B $B!](B $B!](B $B!](B $B!](B $B!](B* $B!](B $B!](B $B!](B $B!](B $B!](B $B!](B $B!](B

53. Euromit 4: Submitted Abstract chronic progressive external ophthalmoplegia (CPEO) MtDNA analysis in eleven newcases reveals a novel mitochondrial tRNA Leucine (CUN) gene mutation and http://www.gen.cam.ac.uk/euromit/abs/siddiqui.html

Chronic Progressive External Ophthalmoplegia (CPEO)- MtDNA analysis in eleven new cases reveals a novel mitochondrial tRNA Leucine (CUN) gene mutation and indicates further genetic heterogeneity Siddiqui A, Pulkes T, Morgan-Hughes JA, Wood NW and Hanna MG Institute of Neurology, London. CPEO is a classical mitochondrial myopathy phenotype with a wide range of age at onset and is frequently associated with large-scale rearrangements in mtDNA. We have analysed muscle mtDNA in eleven new cases of CPEO harbouring cytochrome c oxidase negative ragged red fibres on muscle biopsy. Southern blot analysis excluded large-scale rearrangements in all cases. The clinical details and results of mtDNA sequence analysis will be presented in detail. In one case we identified a novel heteroplasmic tRNA Leucine (CUN) mutation. This mutation is located in a highly conserved position in the anticodon stem of the tRNA molecule and would be predicted to impair intramitochondrial translation. There are now eight mtDNA point mutations reported in association with CPEO. In addition data obtained in the remaining patients we have studied here suggests that there is yet further genetic heterogeneity associated with this mitochondrial phenotype. Financial support from the Wellcome Trust is acknowledged.

54. Kearns Sayre Syndrome From Linkspider UK Health Directory Emergency Medicine An introduction to chronic progressive external ophthalmoplegia.Includes clinical features, work up, treatment and follow up. http://linkspider.co.uk/Health/ConditionsandDiseases/NeurologicalDisorders/Ocula

Match » -All words -Any word -Exact text Search » The Web Jobs / Vacancy Images / Photos FTP / Downloads United Kingdom United States of America Argentina Austria Australia Bangladesh Belgium Bolivia Brazil Bulgaria Canada Chile China Cuba Cyprus Czech Republic Czechoslovakia Denmark Dominican Republic Ecuador Egypt Estonia Finland France Germany Ghana Greece Hong Kong Hungary Iceland India Indonesia Ireland Israel Italy Japan Jordan Kenya Kuwait Latvia Lithuania Luxembourg Malaysia Malta Mexico Moldavia Monaco Morocco Mozambique Nepal Netherlands New Zealand Nicaragua Nigeria North Korea Norway Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Saudi Arabia Singapore South Africa South Korea Spain Sri Lanka Sweden Switzerland Taiwan Tanzania Thailand Tunisia Turkey Ukraine United Arab Emirates Uruguay Venezuela Yemen Yugoslavia Zambia Zimbabwe Ranking » On (no duplicate) Off (allow duplicate) Add my Site Toolbar Affiliates Directory Topic Kearns Sayre Syndrome assoicated to Health Directory Tree: Top Health Conditions and Diseases Neurological Disorders ... Ophthalmoplegia : Kearns Sayre Syndrome ( See Also: Health: Conditions and Diseases: Rare Disorders Searching for kearns sayre synd...?

55. Nucl. Acids. Res. -- Abstracts: Van Den Ouweland Et Al. 20 (4): 679 ARTICLES. Mutations in mitochondrial tRNA genes nonlinkage with syndromesof Wolfram and chronic progressive external ophthalmoplegia. http://nar.oupjournals.org/cgi/content/abstract/20/4/679

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Email this article to a friend Similar articles found in: Nucl. Acids. Res. Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: van den Ouweland, J. M. Maassen, J. A. Alert me when: new articles cite this article Download to Citation Manager ARTICLES Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia JM van den Ouweland, GJ Bruining, D Lindhout, JM Wit, BF Veldhuyzen and JA Maassen Department of Medical Biochemistry, Sylvius Laboratories, University of Leiden, The Netherlands. We have recently identified a point mutation in the mitochondrially encoded tRNA(Leu(UUR)) gene which associates with a combination of type II diabetes mellitus and sensorineural hearing loss in a large pedigree. To extend this finding to other syndromes which exhibit a combination of diabetes mellitus and hearing loss we have sequenced all mitochondrial tRNA genes from two patients with the Wolfram syndrome, a rare congenital disease characterized

56. MITOP Human - Entry chronic progressive external ophthalmoplegia (CPEO) Mutations in MTTN are describedin association with chronic progressive external ophthalmoplegia (CPEO); http://mips.gsf.de/cgi-bin/proj/medgen/tohtml?h tAsn

57. Volume 51 January - December 1928 chronic progressive external ophthalmoplegia. HM . Langdon and WB . Cadwalader.Pages 321 333. Part of the OUP Brain WWW service. General Information. http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_51/Issue_03/510321.sgm.

Volume 51: January - December 1928 Issue 3: October 1928 Abstract Chronic progressive external ophthalmoplegia HM Langdon and WB Cadwalader Pages: Part of the OUP Brain WWW service General Information Click here to register with OUP. This page is maintained by OUP admin Last updated 13 May 97 Part of the OUP Journals World Wide Web service Oxford University Press, 1997

58. Volume 98 January - December 1975 chronic progressive external ophthalmoplegia. G . Danta , RC . Hilton and PG .Lynch. Pages 473 492. Part of the OUP Brain WWW service. General Information. http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_98/Issue_03/980473.sgm.

Volume 98: January - December 1975 Issue 3: September 1975 Abstract Chronic progressive external ophthalmoplegia G Danta RC Hilton and PG Lynch Pages: Part of the OUP Brain WWW service General Information Click here to register with OUP. This page is maintained by OUP admin Last updated 14 May 97 Part of the OUP Journals World Wide Web service Oxford University Press, 1997

59. Mutations In Mitochondrial TRNA Genes: Non-linkage With Syndromes Of Wolfram And February 25; 20 (4) 679 682 Mutations in mitochondrial tRNA genes nonlinkagewith syndromes of Wolfram and chronic progressive external ophthalmoplegia. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=312004

60. Neurology -- Abstracts: Chinnery Et Al. 49 (4): 1166 Neurology. ARTICLES. A novel mitochondrial tRNA isoleucine gene mutationcausing chronic progressive external ophthalmoplegia. PF Chinnery http://www.neurology.org/cgi/content/abstract/49/4/1166

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Citation Map Email this article to a friend Correspondence: Submit a response to this article Similar articles found in: Neurology Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Chinnery, P. F. Turnbull, D. M. Alert me when: new articles cite this article Download to Citation Manager ARTICLES A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia PF Chinnery, MA Johnson, RW Taylor, WF Durward and DM Turnbull Department of Neurology, University of Newcastle upon Tyne, UK. We report a sporadic case of chronic progressive external ophthalmoplegia that developed during childhood and was associated with ragged-red and cytochrome c oxidase (COX)-negative fibers in skeletal muscle. Sequencing of all the mitochondrial transfer RNA (tRNA) genes identified a single potentially pathogenic mutationa T to C transition at position 4274 in the tRNA(Ile) gene. This mutation was not present in skeletal muscle from

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