Novel mitochondrial tRNAIle m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype
Christopher B Jackson, Christoph Neuwirth, Dagmar Hahn, J-M Nuoffer, Stephan Frank, Sabina Gallati, André Schaller
British Journal of Ophthalmology Oct 2014, 98 (10) 1453-1459; DOI: 10.1136/bjophthalmol-2014-305300