Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.
Caporali L, Ghelli AM, Iommarini L, Maresca A, Valentino ML, La Morgia C, Liguori R, Zanna C, Barboni P, De Nardo V, Martinuzzi A, Rizzo G, Tonon C, Lodi R, Calvaruso MA, Cappelletti M, Porcelli AM, Achilli A, Pala M, Torroni A, Carelli V.
Caporali L, et al. Among authors: iommarini l.
Biochim Biophys Acta. 2013 Mar;1832(3):445-52. doi: 10.1016/j.bbadis.2012.12.002. Epub 2012 Dec 14.
Biochim Biophys Acta. 2013.
PMID: 23246842
Free PMC article.