Abbreviation	Meaning
ATP6	Mitochondrially encoded ATP synthase membrane subunit 6
CIs	Confidence Intervals
DNA	Deoxyribonucleic Acid
I2	I-squared (measure of heterogeneity in meta-analysis)
INMEGEN	Instituto Nacional de Medicina Genómica
JBI	Joanna Briggs Institute
MLASA	Myopathy, Lactic Acidosis and Sideroblastic Anemia
MLASA2	Myopathy, Lactic Acidosis and Sideroblastic Anemia Type 2
Mt-TyrRS	Mitochondrial Tyrosyl-tRNA Synthetase
NGS	Next-Generation Sequencing
n.d.	Not Determined
OMIM	Online Mendelian Inheritance in Man
PCR	Polymerase Chain Reaction
PLOGIT	Logit transformation used in meta-analyses
PRISMA	Preferred Reporting Items for Systematic Reviews and Meta-Analyses
PROSPERO	Preferred Reporting Items for Systematic reviews and Meta-Analyses
PFT	Freeman–Tukey double arcsine transformation
PUS1	Pseudouridine Synthase 1 gene
PV	Pathogenic Variant
REM	Random-Effects Model
RT-PCR	Reverse Transcriptase–Polymerase Chain Reaction
tRNA	Transfer Ribonucleic Acid
TyrRS	Tyrosyl-tRNA Synthetase
WES	Whole Exome Sequencing
WGS	Whole-Genome Sequencing