GENERAL COMMENTARY article

Front. Genet., 28 July 2015

Sec. Genetics of Common and Rare Diseases

Volume 6 - 2015 | https://doi.org/10.3389/fgene.2015.00254

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

This article is a commentary on:

  1. Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

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Sara Brito,*Sara Brito1,2*Kyle ThompsonKyle Thompson3Jaume Campistol,Jaume Campistol2,4Jaime ColomerJaime Colomer2Steven A. HardySteven A. Hardy3Langping HeLangping He3Ana Fernndez-MarmiesseAna Fernández-Marmiesse5Lourdes PalaciosLourdes Palacios6Cristina JouCristina Jou7Cecilia Jimnez-Mallebrera,Cecilia Jiménez-Mallebrera2,4Judith Armstrong,Judith Armstrong4,8Raquel Montero,Raquel Montero4,9Rafael Artuch,Rafael Artuch4,9Christin TischnerChristin Tischner10Tina Wenz,Tina Wenz10,11Robert McFarlandRobert McFarland3Robert W. TaylorRobert W. Taylor3
  • 1Serviço de Pediatria, Centro Hospitalar de Leiria, Hospital de Santo André, Leiria, Portugal
  • 2Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Barcelona, Spain
  • 3Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK
  • 4Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain
  • 5Diagnosis and Treatment Unit for Inborn Errors of Metabolism, Hospital Clínico Universitario de Santiago de Compostela, La Coruña, Spain
  • 6Progenika Biopharma a Grifols Company, Derio, Spain
  • 7Pathology Department, Hospital Sant Joan de Déu, Esplugues Barcelona, Spain
  • 8Biochemical, Genetics and Rett Unit, Laboratory Department, Hospital Sant Joan de Déu, Esplugues Barcelona, Spain
  • 9Biochemical Department, Hospital Sant Joan de Déu, Esplugues Barcelona, Spain
  • 10Cluster of Excellence, Cellular Stress Responses in Aging-Associated Diseases, Institute for Genetics, University of Cologne, Cologne, Germany
  • 11German Network for Mitochondrial Disorders, Munich, Germany

A corrigendum on
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

by Brito, S., Thompson, K., Campistol, J., Colomer, J., Hardy, S. A., He, L., et al. (2015). Front. Genet. 6:102. doi: 10.3389/fgene.2015.00102

In our article entitled, “Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations,” published in Frontiers in Genetics on 23rd March 2015 we inadvertently omitted information that the attending paediatrician believes may be relevant to the case. In the interests of accuracy and completeness we would like to add that the patient we describe had been receiving treatment with Ubiquinone (20 mg/day), Riboflavin (100 mg/day), Carnitine (500 mg/day), N-acetylcysteine (100 mg/day), and Folinic acid (15 mg/day) for 6 months prior to inclusion in the report. While there was no obvious improvement in her condition, equally she has not exhibited any further clinical deterioration since treatment began. Radiological progression was, however, evident on a cranial MRI performed 5 months after treatment was initiated. Given the relatively short duration of treatment (approximately 6 months at the time of writing the report) and the neuroradiological progression evident on the repeat cranial MRI, we consider it unlikely that this vitamin and antioxidant treatment has made a substantial contribution to the patient's longer survival.

Conflict of Interest Statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Keywords: GFM1, mtEFG1, mitochondrial disorders, brain MRI, encephalopathy

Citation: Brito S, Thompson K, Campistol J, Colomer J, Hardy SA, He L, Fernández-Marmiesse A, Palacios L, Jou C, Jiménez-Mallebrera C, Armstrong J, Montero R, Artuch R, Tischner C, Wenz T, McFarland R and Taylor RW (2015) Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations. Front. Genet. 6:254. doi: 10.3389/fgene.2015.00254

Received: 16 June 2015; Accepted: 13 July 2015;
Published: 28 July 2015.

Edited and reviewed by: David B. Allison, University of Alabama at Birmingham, USA

Copyright © 2015 Brito, Thompson, Campistol, Colomer, Hardy, He, Fernández-Marmiesse, Palacios, Jou, Jiménez-Mallebrera, Armstrong, Montero, Artuch, Tischner, Wenz, McFarland and Taylor. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

*Correspondence: Sara Brito,c2FyYWJyaUBnbWFpbC5jb20=

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