Sanja Petrovic Pajic Martina Jarc-Vidmar Ana Fakin Maja Sustar Habjan Jelka Brecelj Marija Volk Ales Maver Borut Peterlin Marko Hawlina
10.3389/fneur.2022.1003046
Front Neurol
2022 Oct 28;13:1003046.
152 a>g (ptyr51cys) pathogenic variant dnajc30
CC BY
https://pubmed.ncbi.nlm.nih.gov/36388184/
Case Reports
PMC9649972
36388184
Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series
2022