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
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
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
Extractions: 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: Minor Indexes: Reagent Names: EC 1.- (Succinate Cytochrome c Oxidoreductase)
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
Extractions: 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. Information on the following diseases can be found in the Related Disorders section of this report: 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.
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
Extractions: 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.
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
Extractions: 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)
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
Extractions: 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.
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
Extractions: 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.
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
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Extractions: 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
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
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 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.
Extractions: 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
