Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

Hartmann B, Wai T, Hu H, MacVicar T, Musante L, Fischer-Zirnsak B, Stenzel W, Graf R, van den Heuvel L, Ropers HH, Wienker TF, Hubner C, Langer T, Kaindl AM. Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. Elife. 2016 Aug 6;5.

PubMed ID: 
27495975