81. Muscular Dystrophy Campaign Mitochondrial Myopathies Other names for these diseases include KearnsSayre Syndrome (KSS), chronic ProgressiveExternal ophthalmoplegia (CPEO), Mitochondrial Encephalopathy, Lactic http://www.muscular-dystrophy.org/information/keyfacts/mytomyop.html

@import "../../css/cssstyle.css"; Receive copies of Target MD Get your message to over 30,000 readers by advertising in Target MD magazine. Call for details: David N Russell Mitochondrial Myopathies February 2001 Written by Joanna Poulton, Reader and Honorary Consultant in Mitochondrial Genetics, Nuffield Dept Obstetrics and Gynaecology, The Womens Centre, John Radcliffe Hospital, Oxford Prof.L.Bindoff,Dept.Neurology,Hauleland,Sykehus,Bergen,Norway What are mitochondrial myopathies? Mitochondrial myopathy is a collective term for a group of diseases that particularly affect muscle, but which may also affect every other part of the body including the brain and the eye. Other names for these diseases include: Kearns-Sayre Syndrome (KSS), Chronic Progressive External Ophthalmoplegia (CPEO), Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS), Myoclonus Epilepsy Associated With Ragged-Red Fibres (MERRF), Leigh's disease, and Mitochondrial Cytopathy. Why do I have it? Our bodies are made up of many different tissues, for example muscle, nerve, and liver. Each tissue is composed of small 'building blocks', called cells, and within each cell are small objects known as mitochondria. The job of these mitochondria is to produce energy. Just like a power generator, they take in fuel (the food we eat) and burn it up to generate energy. If this process fails, the cell cannot function adequately and this can lead to disease. Muscle and brain require a lot of energy, and are often the most severely affected.

82. Poster96_59.html Surgical Management of Strabismus Associated with chronic progressive ExternalOphthalmoplegia. David K. Wallace, MD* and Derek T. Sprunger, MD. http://med-aapos.bu.edu/pappostp5/poster96_59.html

83. Gendia | Mitochondrial Molecular Tests Mitochondrial Molecular Tests, Disease, OMIM, Mutation. chronic PROGRESSIVEEXTERNAL ophthalmoplegia (CPEO), 530000, 4977 bp Deletion. 590050, A3243G. T3250C. http://www.gendia.net/tests_tab4.html

Mitochondrial Molecular Tests Disease OMIM Mutation CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (CPEO) 4977 bp Deletion DEAFNESS/ DIABETES DEAFNESS KEARNS–SAYRE (KSS) 4977 bp Deletion LEBER HEREDITARY OPTIC NEUROPATHY (LHON) 10 MUTATIONS: C3275A, LEIGH SYNDROME (MITOCHONDRIAL) MITOCHONDRIAL CARDIOMYOPATHY MITOCHONDRIAL ENCEPHALOMYOPATHY WITH LACTIC ACIDOSIS AND STROKE-LIKE EPISODES (MELAS) 7 MUTATIONS: MITOCHONDRIAL MYOPATHY MYOCLONIC EPILEPSY WITH RAGGED-RED FIBERS (MERRF) NEUROPATHY WITH ATAXIA AND RETINITIS PIGMENTOSA (NARP) Screening for 9 Mitochondrial Mutations: CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (CPEO) KEARNS–SAYRE (KSS) LEBER HEREDITARY OPTIC NEUROPATHY (LHON) LEIGH SYNDROME (MITOCHONDRIAL) MITOCHONDRIAL ENCEPHALOMYOPATHY WITH LACTIC ACIDOSIS AND STROKE-LIKE EPISODES (MELAS) MYOCLONIC EPILEPSY WITH RAGGED-RED FIBERS (MERRF) NEUROPATHY WITH ATAXIA AND RETINITIS PIGMENTOSA (NARP) 9 Mutations: 4977 bp Deletion

84. Muscular Dystrophy, Oculo Gastrointestinal Myxedema, Amyloidosis, Muscular Dystrophy, Hypokalemia, chronic Renal Failure ProgressiveExternal ophthalmoplegia is a rare disorder in which there is drooping http://www.bchealthguide.org/kbase/nord/nord905.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord905"; var hwDocTitle="Muscular Dystrophy, Oculo Gastrointestinal"; var hwRank="1"; var hwSectionHWID="nord905"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Muscular Dystrophy, Oculo Gastrointestinal 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 None Disorder Subdivisions Intestinal Pseudoobstruction with External Ophthalmoplegia Oculogastrointestinal Muscular Dystrophy Ophthalmoplegia-Intestinal Pseudoobstruction Visceral Myopathy-External Ophthalmoplegia Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Intestinal Pseudoobstruction Kearns-Sayre Syndrome Muscular Dystrophy, Oculopharyngeal Ophthalmoplegia, Progressive External

85. Biochem. Soc. Trans (2000) Volume 28, Part 2 - Organisms, Organs, Cells And Orga Abbreviations used mt DNA, mitochondrial DNA; CPEO, chronic progressive externalophthalmoplegia; KSS, Kearns–Sayre syndrome; COX, cytochrome c oxidase; CS http://www.biochemsoctrans.org/bst/028/bst0280159.htm

About the journal Subscriptions Authors Users ... FAQs Biochem. Soc. Trans. (2000) (Printed in Great Britain) Muscle fibres: applications for the study of the metabolic consequences of enzyme deficiencies in skeletal muscle Abbreviations used: c oxidase; CS, citrate synthase. To whom correspondence should be addressed. Abstract Received 12 August 1999 Search... Whole site ...Author ...Keywords ...Title Journal home page Current issue Browse archive by issue Browse archive by meeting ... PDF file

86. Ingenta: Article Summary -- Executive And Visuospatial Deficits In Patients With Article Executive and visuospatial deficits in patients with chronic progressiveexternal ophthalmoplegia and Kearns–Sayre syndrome Brain May 2003, vol. http://www.ingenta.com/isis/searching/ExpandTOC/ingenta?issue=pubinfobike://oup/

87. Gendia | Mitochondrial Molecular Tests Mitochondrial Molecular Tests, . Disease, OMIM, Mutation. chronic PROGRESSIVEEXTERNAL ophthalmoplegia (CPEO), 530000, 4977 bp Deletion. 590050, A3243G. T3250C. http://www.sun.ac.za/kie/unistel/medical_labs/tests_tab4.htm

UNISTEL MEDICAL LABORATORIES List of genetic tests provided under the GENDIA program Mitochondrial Molecular Tests Disease OMIM Mutation CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (CPEO) 4977 bp Deletion DEAFNESS/ DIABETES DEAFNESS KEARNS–SAYRE (KSS) 4977 bp Deletion LEBER HEREDITARY OPTIC NEUROPATHY (LHON) 10 MUTATIONS: C3275A, LEIGH SYNDROME (MITOCHONDRIAL) MITOCHONDRIAL CARDIOMYOPATHY MITOCHONDRIAL ENCEPHALOMYOPATHY WITH LACTIC ACIDOSIS AND STROKE-LIKE EPISODES (MELAS) 7 MUTATIONS: MITOCHONDRIAL MYOPATHY MYOCLONIC EPILEPSY WITH RAGGED-RED FIBERS (MERRF) NEUROPATHY WITH ATAXIA AND RETINITIS PIGMENTOSA (NARP) Screening for 9 Mitochondrial Mutations: CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (CPEO) KEARNS–SAYRE (KSS) LEBER HEREDITARY OPTIC NEUROPATHY (LHON) LEIGH SYNDROME (MITOCHONDRIAL) MITOCHONDRIAL ENCEPHALOMYOPATHY WITH LACTIC ACIDOSIS AND STROKE-LIKE EPISODES (MELAS) MYOCLONIC EPILEPSY WITH RAGGED-RED FIBERS (MERRF) NEUROPATHY WITH ATAXIA AND RETINITIS PIGMENTOSA (NARP) 9 Mutations: 4977 bp Deletion

88. Arch Ophthalmol -- Abstracts: Carta Et Al. 118 (10): 1441 Ultrastructural Analysis of Extraocular Muscle in chronic ProgressiveExternal ophthalmoplegia Arturo Carta, MD ; Tiziana D Adda http://archopht.ama-assn.org/cgi/content/abstract/118/10/1441

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA For The Media Classified Ads Meetings Peer Review Congress Vol. 118 No. 10, October 2000 Featured Link E-mail Alerts Clinicopathologic Report Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Carta A Zeviani M ISI Web of Science (3) Contact me when this article is cited Topic Collections Ophthalmology, Other Collection E-mail Alerts Ultrastructural Analysis of Extraocular Muscle in Chronic Progressive External Ophthalmoplegia Arturo Carta, MD Tiziana D'Adda, BSc Franco Carrara, BA Massimo Zeviani, MD, PhD Arch Ophthalmol. Extraocular muscles are primarily involved in many mitochondrial diseases, but no reports exist regarding the morphological appearance of the muscles in cases of long-standing ocular myopathies. For this reason, muscle samples obtained from surgery in a sporadic

89. Simone Bosbach , Publikationen Executive and visuospatial deficits in patients with chronic progressiveexternal ophthalmoplegia and KearnsSayre syndrome. Brain, 126(5), . http://www.mpipf-muenchen.mpg.de/cgi-bin/mitarbeiter.cgi?name=BOSI&filetype=publ

90. ¥ß¥È¥³¥ó¥É¥ê¥¢Ç¾¶Ú¾É Mitochondrial Encephalomyopathy The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set. http://akimichi.homeunix.net/~emile/aki/medical/neurology/node167.html

Next: Up: ¥ß¥È¥³¥ó¥É¥ê¥¢°äÅÁÉ mitchondrial inheritance Previous: ¥ß¥È¥³¥ó¥É¥ê¥¢°äÅÁÉ mitchondrial inheritance Subsections ËýÀ­¿Ê¹ÔÀ­³°´ã¶ÚËãáã¾É¸õ·² chronic progressive external ophthalmoplegia,CPEO myoclonus epilepsy associated with ragged-red fibers,MERRF mitochondrial myopathy encephapathy lactic acidosis and stroke-like episodes, MELAS ¥ß¥È¥³¥ó¥É¥ê¥¢Ç¾¶Ú¾É mitochondrial encephalomyopathy , p.264] , p.261] , p.351] ŵµò: NEW¾®»ù²Ê³Ø1ÈÇ [ , p.572] ŵµò: Nelson:Pediatrics.16ed [ , p.1845] ËýÀ­¿Ê¹ÔÀ­³°´ã¶ÚËãáã¾É¸õ·² chronic progressive external ophthalmoplegia,CPEO Kearns-Sayre¾É¸õ·²,KSS mitochondrial myopathy encephapathy lactic acidosis and stroke-like episodes, MELAS myoclonus epilepsy associated with ragged-red fibers,MERRF MNGIE Pearson¾É¸õ·² LeberÉ ¶ÚÆùÆâ¤Î¥ß¥È¥³¥ó¥É¥ê¥¢Æâ¤Î¥Á¥È¥¯¥í¡¼¥àC°Û¾ï ¥ß¥È¥³¥ó¥É¥ê¥¢Æâ¤ÎTCA²óÏ©¤¬ºîÆ°¤·¤Ê¤¤¤¿¤á¤Ë¥Ô¥ë¥Ó¥ó»À¤Ë¤«¤ï¤¤ÆÆý»À¤Î»ºÀ¸¤¬²á¾ê¤È¤Ê¤ê¡¢ Æý»À¥¢¥·¥É¡¼¥·¥¹¤Ë¤Ê¤ë¡£ GomoriÀ÷¿§ ragged red fiber¤¬Ç§¤á¤é¤ì¤ë¡£ ÉÂÍýÁü¤Ï ËýÀ­¿Ê¹ÔÀ­³°´ã¶ÚËãáã¾É¸õ·² chronic progressive external ophthalmoplegia,CPEO , p.265]

91. CPEO The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set. http://www.ncnp.go.jp/nin/guide/r2/genedigmanu_html/CPEO.html

CPEO (Chronic progressive external ophthalmoplegia) EŽ¾Š³‚ÌŠT—v ŠOŠá‹Ø–ƒáƒ‚̏Ǐó‚ð‚à‚Š³ŽÒŒQ‚ð’ʏíA’P‚É–«is«ŠOŠá‹Ø–ƒáƒÇŒóŒQichronic progressive external ophthalmoplegia: CPEOj‚Ə̂µ‚Ä‚¢‚éBŠááىº‚‹y‚ÑŠOŠá‹Ø–ƒáƒAS“`“±áŠQA–Ô–ŒF‘f•Ï«‚ð‚R’¥‚Æ‚·‚éÇŒóŒQ‚ðKearsn-SayreÇŒóŒQiKSSj‚Æ‚¢‚¤B‚±‚¿‚ç‚́A’Ê í¬Ž™Šú‚É”­Ç‚µA•aˆö‚ª‹É‚ß‚Ä—ÞŽ—‚µ‚Ä‚¢‚邱‚Æ‚©‚çKSS‚ÍCPEO‚̏dÇŒ^‚ƍl‚¦‚ç‚ê‚éB E—Տ°‘œ E”­Ç‹@˜ @CPEO‚Ì70“AKSS‚Ì90“‚ɁAmtDNA‚ÌŒ‡Ž¸‚à‚µ‚­‚ÍŒ‡Ž¸^d•¡‚ð”F‚ß‚éB‚³‚ç‚ÉŒ‡Ž¸‚̏ꍇ‚́A’PˆêŒ‡Ž¸‚Æ‘½dŒ‡Ž¸‚ª‚ ‚èA’PˆêŒ‡Ž¸‚ÍŽU”­«‚É”F‚ß‚ç‚ê“Ë‘R•ÏˆÙ‚É‚æ‚é‚ƍl‚¦‚ç‚ê‚éBˆê•ûA‘½dŒ‡Ž¸‚͏íõF‘Ì—D«ˆâ“`‚Æ—ò«ˆâ“`‚ª’m‚ç‚ê‚Ä‚¨‚èA—D«ˆâ“`‰ÆŒn‚ÅANT1 (adenine nucleotide transporter 1)ATwinkleAPOLG‚Ȃǂ̈â“`Žq•ÏˆÙA—ò«‰ÆŒn‚ÅTP (thymidine phospharylase)‚̈â“`Žq•ÏˆÙ‚ª“¯’肳‚ê‚Ä‚¢‚邪A‚³‚ç‚É‘¼‚Ì•aˆö‚ª‚ ‚é‚ƍl‚¦‚ç‚ê‚Ä‚¢‚éB‚Ü‚½Ad•¡‚ð—L‚·‚éÇ—á‚Å‚Í•êŒnˆâ“`‚·‚邱‚Æ‚ª•ñ‚³‚ê‚Ä‚¢‚éB“TŒ^“I‚ÈCPEO‚Ì‚Ù‚Æ‚ñ‚ǂ́AmtDNA‚Ì’PˆêŒ‡Ž¸‚ð—L‚·‚éB Eˆâ“`Žqf’f–@ E ˆâ“`Žqf’fŽè‡ @‘“à‚ÌŒŸ¸‰ïŽÐ‚ł́A“Œ—m–aABMLASRL‚ōs‚Á‚Ä‚¢‚éD @ @‘“à‚ÌŒ¤‹†‹@ŠÖ‚Å‚às‚Á‚Ä‚¢‚éD‚»‚̍ŐVî•ñ‚ɂ‚¢‚ẮA ‚¢‚Å‚ñƒlƒbƒg Eˆâ“`Žqf’f‚ɍۂµ‚Ä‚Ì”z—¶Ž–€ ŒŸ¸‚̎菇 ƒŠƒXƒgiƒJƒeƒSƒŠ[•Ê j‚É‚à‚Ç‚é ƒŠƒXƒgiƒAƒ‹ƒtƒ@ƒxƒbƒg‡j‚É‚à‚Ç‚é

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