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Article

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

PloS one - 1 Jan 2017

Nafisinia Michael, Riley Lisa G, Gold Wendy A, Bhattacharya Kaustuv, Broderick Carolyn R, Thorburn David R, Simons Cas, Christodoulou John

Abstract excerpt

Glycyl-tRNA synthetase (GARS; OMIM 600287) is one of thirty-seven tRNA-synthetase genes that catalyses the synthesis of glycyl-tRNA, which is required to insert glycine into proteins within the cytosol and mitochondria. To date, eighteen mutations in GARS have been reported in patients with autosomal-dominant Charcot-Marie-Tooth disease type 2D (CMT2D; OMIM 601472), and/or distal spinal muscular atrophy type V...

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PMID: 28594869
DOI: 10.1371/journal.pone.0178125
PMCID: PMC5464557

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Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.PMID 28594869Read ↗

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