Literature DB >> 2376752

Kearns-Sayre syndrome: different amounts of deleted mitochondrial DNA are present in several autoptic tissues.

C Ponzetto1, N Bresolin, A Bordoni, M Moggio, G Meola, L Bet, A Prelle, G Scarlato.   

Abstract

A population of deleted mitochondrial DNA (mtDNA) was found in different amounts in autoptic muscle, heart, cortex, cerebellum, liver and kidney of a patient who died of Kearn-Sayre Syndrome (KSS). The widespread occurrence of the deletion correlates with the multisystem nature of KSS and supports the hypothesis that this is a genetic disease due to an alteration of mtDNA presumably arising in the oocyte or early embryo.

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Year:  1990        PMID： 2376752     DOI： 10.1016/0022-510x(90)90133-8

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


  9 in total

1.  The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations.

Authors:  Y Kobayashi; K Ichihashi; S Ohta; K Nihei; Y Kagawa; M Yanagisawa; M Y Momoi
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 2.  The genetics of strabismus.

Authors:  M Michaelides; A T Moore
Journal:  J Med Genet       Date:  2004-09       Impact factor: 6.318

3.  Prenatal diagnosis of mitochondrial DNA8993 T----G disease.

Authors:  A E Harding; I J Holt; M G Sweeney; M Brockington; M B Davis
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

4.  Renal manifestations of primary mitochondrial disorders.

Authors:  Josef Finsterer; Fulvio Alexandre Scorza
Journal:  Biomed Rep       Date:  2017-04-12

5.  Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions.

Authors:  M H Tulinius; A Oldfors; E Holme; N G Larsson; M Houshmand; P Fahleson; L Sigström; B Kristiansson
Journal:  Eur J Pediatr       Date:  1995-01       Impact factor: 3.183

6.  Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level.

Authors:  A Prelle; G Fagiolari; N Checcarelli; M Moggio; A Battistel; G P Comi; P Bazzi; A Bordoni; M Zeviani; G Scarlato
Journal:  Acta Neuropathol       Date:  1994       Impact factor: 17.088

7.  Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy.

Authors:  P Lertrit; A S Noer; E Byrne; S Marzuki
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

8.  Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

Authors:  Alejandro Horga; Robert D S Pitceathly; Julian C Blake; Catherine E Woodward; Pedro Zapater; Carl Fratter; Ese E Mudanohwo; Gordon T Plant; Henry Houlden; Mary G Sweeney; Michael G Hanna; Mary M Reilly
Journal:  Brain       Date:  2014-10-03       Impact factor: 13.501

9.  Unusual Phenotype and Disease Trajectory in Kearns-Sayre Syndrome.

Authors:  Josef Finsterer; Michael Winklehner; Claudia Stöllberger; Thomas Hummel
Journal:  Case Rep Neurol Med       Date:  2020-02-27
  9 in total

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