A novel pathogenic variant in MT-CO2 causes an isolated mitochondrial complex IV deficiency and late-onset cerebellar ataxia

Zierz, C.M., Baty, K., Blakely, E.L. et al. (7 more authors) (2019) A novel pathogenic variant in MT-CO2 causes an isolated mitochondrial complex IV deficiency and late-onset cerebellar ataxia. Journal of Clinical Medicine, 8 (6). 789. ISSN 2077-0383

Abstract

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Authors/Creators:
Copyright, Publisher and Additional Information: © 2019 The Authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
Keywords: cerebellar ataxia; heteroplasmy; isolated COX deficiency; mitochondrial DNA; single fibre segregation studies
Dates:
  • Accepted: 30 May 2019
  • Published (online): 4 June 2019
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Sheffield Teaching Hospitals
Depositing User: Symplectic Sheffield
Date Deposited: 08 Jul 2019 11:15
Last Modified: 08 Jul 2019 13:30
Status: Published
Publisher: MDPI AG
Refereed: Yes
Identification Number: https://doi.org/10.3390/jcm8060789
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