| 1 | COXPD13, PNPT1, RMRP |
| Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency. | |
| Vedrenne V, Gowher A, De Lonlay P, Nitschke P, Serre V, Boddaert N, Altuzarra C, Mager-Heckel AM, Chretien F, Entelis N, Munnich A, Tarassov I, Rötig A. | |
| Am J Hum Genet 91(5):912-8. doi: 10.1016/j.ajhg.2012.09.001. Epub 2012 Oct 18. 2012 | |