| 1 | PEO5, RRM2B |
| Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia. | |
| Horga A, Pitceathly RD, Blake JC, Woodward CE, Zapater P, Fratter C, Mudanohwo EE, Plant GT, Houlden H, Sweeney MG, Hanna MG, Reilly MM. | |
| Brain 137(Pt 12):3200-12. doi: 10.1093/brain/awu279. Epub 2014 Oct 3. 2014 | |
| 2 | PEO5, RRM2B |
| RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions. | |
| Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW. | |
| Neurology 76(23):2032-4. No abstract available. 2011 | |
| 3 | PEO5, RRM2B |
| A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. | |
| Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, Suomalainen A. | |
| Am J Hum Genet 85(2):290-5. Epub 2009 Aug 6. 2009 | |