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Published online: 2024-11-27

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DNAJC30 variants can also manifest phenotypically as Leigh/LHON overlap syndrome

Josef Finsterer1

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References

  1. Dzwilewski K, Chojnowski K, Krygier M, et al. Effects of idebenone treatment in a patient with DNAJC30-associated Leigh Syndrome. Neurol Neurochir Pol. 2024; 58(4): 468–470.
  2. Rahman S. Leigh syndrome. Handb Clin Neurol. 2023; 194: 43–63.
  3. Ren H, Lin Y, Li Y, et al. Leber's hereditary optic neuropathy plus dystonia caused by the mitochondrial ND1 gene m.4160 T > C mutation. Neurol Sci. 2022; 43(9): 5581–5592.
  4. Berardo A, Emmanuele V, Vargas W, et al. Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6. J Neurol. 2020; 267(3): 823–829.
  5. Shemesh A, Sood G, Blair K, Margolin E. Leber Hereditary Optic Neuropathy (LHON). StatPearls [Internet]. Treasure Island (FL): StatPearls 2024 Jan. 2024 Mar 1.
  6. Finsterer J. Leigh Syndrome Caused by Compound Heterozygous Variants c.1162A_C and c.1138G_C in the NDUFV1 Gene: A Case Report. Cureus. 2024; 16(10): e71127.
  7. Şenol HB, Soydemir D, Polat Aİ, et al. An Unusual Presentation of Leber Hereditary Optic Neuropathy-Plus Case Caused by a Novel DNAJC30 Variant. Am J Med Genet A. 2024 [Epub ahead of print]: e63902.