MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

Ng, Yi Shiau; Lax, Nichola Z; Maddison, Paul; Alston, Charlotte L; Blakely, Emma L; Hepplewhite, Philippa D; Riordan, Gillian; Meldau, Surita; Chinnery, Patrick; Pierre, Germaine; Chronopoulou, Efstathia; Du, Ailian; Hughes, Ieuan; Morris, Andrew A; Kamakari, Smaragda; Chrousos, Georgia; Rodenburg, Richard J; Saris, Christiaan GJ; Feeney, Catherine; Hardy, Steven A; Sakakibara, Takafumi; Sudo, Akira; Okazaki, Yasushi; Murayama, Kei; Mundy, Helen; Hanna, Michael G; Ohtake, Akira; Schaefer, Andrew M; Champion, Mike P; Turnbull, Doug M; Taylor, Robert W; Pitceathly, Robert DS; McFarland, Robert; Gorman, Gráinne S

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Authors

Ng, Yi Shiau

Lax, Nichola Z

Maddison, Paul

Alston, Charlotte L

Blakely, Emma L

Hepplewhite, Philippa D

Riordan, Gillian

Publication Date

2018-04

Journal Title

EBioMedicine

ISSN

2352-3964

Volume

Pages

86-93

Language

eng

Type

Article

Physical Medium

Print-Electronic

Metadata

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Citation

Ng, Y. S., Lax, N. Z., Maddison, P., Alston, C. L., Blakely, E. L., Hepplewhite, P. D., Riordan, G., et al. (2018). MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.. EBioMedicine, 30 86-93. https://doi.org/10.1016/j.ebiom.2018.02.010

Keywords

Brain, Humans, Syndrome, Electron Transport Complex I, Mitochondrial Proteins, Magnetic Resonance Imaging, Cohort Studies, Mutation, Adolescent, Adult, Child, Female, Male, Young Adult

Sponsorship

Department of Health (via National Institute for Health Research (NIHR)) (unknown)

WELLCOME TRUST (101876/Z/13/Z)

Cambridge University Hospitals NHS Foundation Trust (CUH) (3819-1617-17)

Department of Health (via Newcastle University) (BH091682-RG81903)

Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)

Identifiers

External DOI: https://doi.org/10.1016/j.ebiom.2018.02.010

This record's URL: https://www.repository.cam.ac.uk/handle/1810/283380

Rights

Attribution 4.0 International

Licence URL: https://creativecommons.org/licenses/by/4.0/

Except where otherwise noted, this item's licence is described as Attribution 4.0 International