Poole, OV;
Horga, A;
Hardy, SA;
Bugiardini, E;
Woodward, CE;
Hargreaves, IP;
Merve, A;
... Pitceathly, RDS; + view all
(2020)
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant.
Neurology Genetics
, 6
(2)
, Article e413. 10.1212/nxg.0000000000000413.
(In press).
Preview |
Text
e413.full.pdf - Published Version Download (380kB) | Preview |
Abstract
Most pathogenic mitochondrial DNA (mtDNA) variants occur in the 22 mtDNA-encoded tRNA (mt-tRNA) genes. However, despite more than 270 reported mt-tRNA gene mutations, only 5 reside within mt-tRNAGly (MT-TG). We report a rare MT-TG variant and evaluate this, in addition to all previously reported MT-TG variants, against the published criteria used to help determine the pathogenicity of the mt-tRNA variants.
| Type: | Article |
|---|---|
| Title: | Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1212/nxg.0000000000000413 |
| Publisher version: | https://doi.org/10.1212/nxg.0000000000000413 |
| Language: | English |
| Additional information: | This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0/ |
| UCL classification: | UCL 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 > Department of Neuromuscular Diseases |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10093830 |
Archive Staff Only
 |
View Item |
