UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1

Poole, OV; Everett, CM; Gandhi, S; Marino, S; Bugiardini, E; Woodward, C; Lam, A; ... Pitceathly, RDS; + view all (2019) Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1. Mitochondrion , 47 pp. 294-297. 10.1016/j.mito.2019.02.004. Green open access

[img]
Preview
Text
1-s2.0-S1567724918301752-main.pdf - Accepted version

Download (1MB) | Preview

Abstract

Adult-onset Leigh syndrome is a rare but important manifestation of mitochondrial disease. We report a 17 year old female who presented with subacute encephalopathy, brainstem and extrapyramidal signs, raised CSF lactate, and symmetrical hyperintensities in the basal ganglia on T2-weighted cerebral MRI. The presence of cytochrome c oxidase deficient fibres in muscle tissue prompted sequencing of the entire mitochondrial genome which revealed the novel stop codon mutation m.6579G>A; p.Gly226X in MT-CO1. Here we present the case and review the clinicopathological and molecular spectrum of previously reported MT-CO1 truncating mutations.

Type: Article
Title: Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1
Location: Netherlands
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.mito.2019.02.004
Publisher version: https://doi.org/10.1016/j.mito.2019.02.004
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Cytochrome c oxidase, Leigh syndrome, MT-CO1
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10068646
Downloads since deposit
96Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item