Vol 59, No 1 (2025)
Response to Letter to the Editors
Published online: 2025-01-20
Response to: DNAJC30 variants can also manifest phenotypically as Leigh/LHON overlap syndrome
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Abstract
Not available
References
- Finsterer J. DNAJC30 variants can also manifest phenotypically as Leigh/LHON overlap syndrome. Neurol Neurochir Pol. 2024 [Epub ahead of print].
- Dzwilewski K, Chojnowski K, Krygier M, et al. Effects of idebenone treatment in a patient with DNAJC30-associated Leigh Syndrome. Neurologia i Neurochirurgia Polska. 2024; 58(4): 468–470.
- McCormick EM, Keller K, Taylor JP, et al. NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel. Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum. Ann Neurol. 2023; 94(4): 696–712.
- Zawadzka M, Krygier M, Pawłowicz M, et al. Expanding the phenotype of DNAJC30-associated Leigh syndrome. Clin Genet. 2022; 102(5): 438–443.
