Associated Papers
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Blickhäuser B et al.
Brain : a Journal of Neurology, 2024
DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.
Skorczyk-Werner A et al.
International Journal of Molecular Sciences, 2023
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.
Nesti C et al.
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
Expanding the phenotype of DNAJC30-associated Leigh syndrome.
Zawadzka M et al.
Clinical Genetics, 2022
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