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Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA Gly ( MT-TG ) variant

Poole, OV, Hardy, SA, Bugiardini, E, Woodward, CE, Hargreaves, IP, Merve, A, Quinlivan, R, Taylor, RW, Hanna, MG and Pitceathly, RDS (2020) Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA Gly ( MT-TG ) variant. Neurology Genetics, 6 (2). ISSN 2376-7839

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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).1 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.2

Item Type: Article
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > R Medicine (General)
R Medicine > RM Therapeutics. Pharmacology
Divisions: Pharmacy & Biomolecular Sciences
Publisher: Lippincott, Williams & Wilkins
Date Deposited: 26 Mar 2020 12:31
Last Modified: 26 Mar 2020 12:45
DOI or Identification number: 10.1212/NXG.0000000000000413
URI: http://researchonline.ljmu.ac.uk/id/eprint/12600

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