Vol 58, No 4 (2024)
Letter to the Editors
Published online: 2024-08-12
Effects of idebenone treatment in a patient with DNAJC30-associated Leigh Syndrome
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Abstract
Not available
Keywords: DNAJC30Leigh Syndromeoptic neuropathyidebenonemitochondrial diseasedystonia
References
- Stenton SL, Sheremet NL, Catarino CB, et al. Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. J Clin Invest. 2021; 131(6).
- Stenton SL, Tesarova M, Sheremet NL, et al. DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. Brain. 2022; 145(5): 1624–1631.
- Nesti C, Ticci C, Rubegni A, et al. Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome. J Neurol. 2023; 270(6): 3266–3269.
- Zawadzka M, Krygier M, Pawłowicz M, et al. Expanding the phenotype of DNAJC30-associated Leigh syndrome. Clin Genet. 2022; 102(5): 438–443.
- Chen PS, Lee NC, Sung CJ, et al. Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5. Mov Disord. 2023; 38(12): 2217–2229.
- Blickhäuser B, Stenton SL, Neuhofer CM, et al. Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant. Brain. 2024; 147(6): 1967–1974.
- Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11146415/ (06.07.2024).
