Complex I deficiency and Leigh syndrome through the eyes of a clinician
Graphical Abstract K. Õunap and K. Reinson discuss the biochemical and functional characterization of the NDUFC2 pathogenic variants identified in children with Leigh syndrome by R. Taylor and colleagues, in this issue of EMBO Molecular Medicine
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Format: | Article |
Language: | English |
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Springer Nature
2020-10-01
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Series: | EMBO Molecular Medicine |
Online Access: | https://doi.org/10.15252/emmm.202013187 |
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author | Karit Reinson Katrin Õunap |
author_facet | Karit Reinson Katrin Õunap |
author_sort | Karit Reinson |
collection | DOAJ |
description | Graphical Abstract K. Õunap and K. Reinson discuss the biochemical and functional characterization of the NDUFC2 pathogenic variants identified in children with Leigh syndrome by R. Taylor and colleagues, in this issue of EMBO Molecular Medicine |
first_indexed | 2024-03-07T17:27:39Z |
format | Article |
id | doaj.art-e785d23cf6604153bcb98326a74885dd |
institution | Directory Open Access Journal |
issn | 1757-4676 1757-4684 |
language | English |
last_indexed | 2025-02-18T14:19:17Z |
publishDate | 2020-10-01 |
publisher | Springer Nature |
record_format | Article |
series | EMBO Molecular Medicine |
spelling | doaj.art-e785d23cf6604153bcb98326a74885dd2024-10-28T08:54:37ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842020-10-0112111310.15252/emmm.202013187Complex I deficiency and Leigh syndrome through the eyes of a clinicianKarit Reinson0Katrin Õunap1Department of Clinical Genetics, Institute of Clinical Medicine, University of TartuDepartment of Clinical Genetics, Institute of Clinical Medicine, University of TartuGraphical Abstract K. Õunap and K. Reinson discuss the biochemical and functional characterization of the NDUFC2 pathogenic variants identified in children with Leigh syndrome by R. Taylor and colleagues, in this issue of EMBO Molecular Medicinehttps://doi.org/10.15252/emmm.202013187 |
spellingShingle | Karit Reinson Katrin Õunap Complex I deficiency and Leigh syndrome through the eyes of a clinician EMBO Molecular Medicine |
title | Complex I deficiency and Leigh syndrome through the eyes of a clinician |
title_full | Complex I deficiency and Leigh syndrome through the eyes of a clinician |
title_fullStr | Complex I deficiency and Leigh syndrome through the eyes of a clinician |
title_full_unstemmed | Complex I deficiency and Leigh syndrome through the eyes of a clinician |
title_short | Complex I deficiency and Leigh syndrome through the eyes of a clinician |
title_sort | complex i deficiency and leigh syndrome through the eyes of a clinician |
url | https://doi.org/10.15252/emmm.202013187 |
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