Literature DB >> 11579428

Epidemiology and treatment of mitochondrial disorders.

P F Chinnery1, D M Turnbull.   

Abstract

The last ten years have seen a huge increase in the number of different genetic defects found in patients with mitochondrial disorders, but the true impact of mitochondrial disease is only just becoming apparent. Mitochondrial diseases are far more common than was anticipated. Although there have also been major advances in our understanding of mitochondrial pathology, the clinical management of patients with mitochondrial disease is largely supportive. In this article, we focus on primary disorders of the mitochondrial respiratory chain and mtDNA defects. We review the available epidemiological data, outline current strategies for the management of mitochondrial disease, and highlight new therapeutic approaches that may prove useful in the future. Copyright 2001 Wiley-Liss, Inc.

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Year:  2001        PMID: 11579428     DOI: 10.1002/ajmg.1426

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  39 in total

1.  Cardiovascular magnetic resonance imaging (CMR) reveals characteristic pattern of myocardial damage in patients with mitochondrial myopathy.

Authors:  Ali Yilmaz; Hans-Jürgen Gdynia; Matthias Ponfick; Sabine Rösch; Alfred Lindner; Albert C Ludolph; Udo Sechtem
Journal:  Clin Res Cardiol       Date:  2011-12-06       Impact factor: 5.460

2.  Possible mitochondrial dysfunction and its association with antiretroviral therapy use in children perinatally infected with HIV.

Authors:  Marilyn J Crain; Miriam C Chernoff; James M Oleske; Susan B Brogly; Kathleen M Malee; Peggy R Borum; William A Meyer; Wendy G Mitchell; John H Moye; Heather M Ford-Chatterton; Russell B Van Dyke; George R Seage Iii
Journal:  J Infect Dis       Date:  2010-07-15       Impact factor: 5.226

Review 3.  Mitochondria.

Authors:  P F Chinnery; E A Schon
Journal:  J Neurol Neurosurg Psychiatry       Date:  2003-09       Impact factor: 10.154

4.  Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

Authors:  Sarah E Calvo; Alison G Compton; Steven G Hershman; Sze Chern Lim; Daniel S Lieber; Elena J Tucker; Adrienne Laskowski; Caterina Garone; Shangtao Liu; David B Jaffe; John Christodoulou; Janice M Fletcher; Damien L Bruno; Jack Goldblatt; Salvatore Dimauro; David R Thorburn; Vamsi K Mootha
Journal:  Sci Transl Med       Date:  2012-01-25       Impact factor: 17.956

5.  Pulmonary hypertension--a new manifestation of mitochondrial disease.

Authors:  A R Barclay; G Sholler; J Christodolou; A Shun; S Arbuckle; S Dorney; M O Stormon
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

6.  Introduction of an additional pathway for lactate oxidation in the treatment of lactic acidosis and mitochondrial dysfunction in Caenorhabditis elegans.

Authors:  Leslie I Grad; Leanne C Sayles; Bernard D Lemire
Journal:  Proc Natl Acad Sci U S A       Date:  2005-12-12       Impact factor: 11.205

7.  Maternally inherited deafness and unusual phenotypic manifestations associated with A3243G mitochondrial DNA mutation.

Authors:  Katalin Komlósi; Richárd Kellermayer; Anita Maász; Viktória Havasi; Katalin Hollódy; Olga Vincze; Hajnalka Merkli; Endre Pál; Béla Melegh
Journal:  Pathol Oncol Res       Date:  2005-07-01       Impact factor: 3.201

8.  Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?

Authors:  P Freisinger; R Horvath; C Macmillan; J Peters; M Jaksch
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

Review 9.  Energetic depression caused by mitochondrial dysfunction.

Authors:  Frank Norbert Gellerich; Sonata Trumbeckaite; Tobias Müller; Marcus Deschauer; Ying Chen; Zemfira Gizatullina; Stephan Zierz
Journal:  Mol Cell Biochem       Date:  2004 Jan-Feb       Impact factor: 3.396

10.  Targeted exome sequencing of suspected mitochondrial disorders.

Authors:  Daniel S Lieber; Sarah E Calvo; Kristy Shanahan; Nancy G Slate; Shangtao Liu; Steven G Hershman; Nina B Gold; Brad A Chapman; David R Thorburn; Gerard T Berry; Jeremy D Schmahmann; Mark L Borowsky; David M Mueller; Katherine B Sims; Vamsi K Mootha
Journal:  Neurology       Date:  2013-04-17       Impact factor: 9.910

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