Associated Papers
First Case in Lithuania of an Autosomal Recessive Mutation in the DNAJC30 Gene as a Cause of Leber's Hereditary Optic Neuropathy.
Sereikaite L et al.
Genes, 2025
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.
Lenaers G et al.
Brain : a Journal of Neurology, 2023
Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.
Major TC et al.
Frontiers in Neurology, 2023
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
Kieninger S et al.
Journal of Medical Genetics, 2022
Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.
Petrovic Pajic S et al.
Frontiers in Neurology, 2022
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