Literature DB >> 11453453

A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy.

C Karadimas1, K Tanji, M Geremek, P Chronopoulou, T Vu, S Krishna, C M Sue, S Shanske, E Bonilla, S DiMauro, M Lipson, R Bachman.   

Abstract

We describe a 5-year-old child with hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis. Mitochondrial DNA analysis showed a heteroplasmic A5814G point mutation in the tRNA(Cys) gene. The mutational load was extremely high (>95%) in muscle, fibroblasts, and blood. This report expands the clinical heterogeneity of the A5814G mutation, which should be considered in the differential diagnosis of hypertrophic cardiomyopathy in childhood.

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Year:  2001        PMID： 11453453     DOI： 10.1177/088307380101600715

Source DB:  PubMed          Journal:  J Child Neurol        ISSN： 0883-0738            Impact factor:   1.987


  4 in total

1.  Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency.

Authors:  Yutaka Nishigaki; Ramon Martí; William C Copeland; Michio Hirano
Journal:  J Clin Invest       Date:  2003-06       Impact factor: 14.808

2.  Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.

Authors:  John P Kemp; Paul M Smith; Angela Pyle; Vivienne C M Neeve; Helen A L Tuppen; Ulrike Schara; Beril Talim; Haluk Topaloglu; Elke Holinski-Feder; Angela Abicht; Birgit Czermin; Hanns Lochmüller; Robert McFarland; Patrick F Chinnery; Zofia M A Chrzanowska-Lightowlers; Robert N Lightowlers; Robert W Taylor; Rita Horvath
Journal:  Brain       Date:  2010-12-17       Impact factor: 13.501

3.  Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions.

Authors:  Tomoya Kawazoe; Shinsuke Tobisawa; Keizo Sugaya; Akinori Uruha; Kazuhito Miyamoto; Takashi Komori; Yu-Ichi Goto; Ichizo Nishino; Hiroshi Yoshihashi; Takeshi Mizuguchi; Naomichi Matsumoto; Naohiro Egawa; Akihiro Kawata; Eiji Isozaki
Journal:  Intern Med       Date:  2021-08-24       Impact factor: 1.271

4.  An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.

Authors:  Maria J Guillen Sacoto; Kimberly A Chapman; Deneen Heath; Mary Beth Seprish; Dina J Zand
Journal:  Mol Genet Metab Rep       Date:  2015-04-13
  4 in total

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