Associated Papers
Ataxia As New Presentation of Likely Combined Oxidative Phosphorylation Deficiency 54 (COXPD54): A Case Report and Literature Review.
Bin Khunayfir A et al.
Movement Disorders Clinical Practice, 2025
Ribonucleases in Mendelian disease: Characterization and insight from model organisms.
Dutta A et al.
Genes & Diseases, 2025
41630789 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Smith TB et al.
European Journal of Human Genetics : Ejhg, 2023
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Hochberg I et al.
American Journal of Human Genetics, 2021
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