DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Lebers hereditary optic neuropathy and optic atrophy

Conclusion
This study expands previous findings on arLHON and emphasises the importance of DNAJC30 in the genetic diagnostics of LHON and OA in European patients.

Source: Journal of Medical Genetics - September 26, 2022 Category: Genetics & Stem Cells Authors: Kieninger, S., Xiao, T., Weisschuh, N., Kohl, S., Rüther, K., Kroisel, P. M., Brockmann, T., Knappe, S., Kellner, U., Lagreze, W., Mazzola, P., Haack, T. B., Wissinger, B., Tonagel, F. Tags: Open access Vision science Source Type: research