Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Fiorini C, Degiorgi A, Cascavilla ML, Tropeano CV, La Morgia C, Battista M, Ormanbekova D, Palombo F, Carbonelli M, Bandello F, Carelli V, Maresca A, Barboni P, Baruffini E, Caporali L.
Fiorini C, et al. Among authors: barboni p.
J Med Genet. 2023 Dec 21;61(1):93-101. doi: 10.1136/jmg-2023-109340.
J Med Genet. 2023.
PMID: 37734847
Free PMC article.