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Letter to the Editors
Published online: 2024-11-27
DNAJC30 variants can also manifest phenotypically as Leigh/LHON overlap syndrome
DOI: 10.5603/pjnns.103221
Pubmed: 39601616
Abstract
Not available
Keywords: DNAJC30LHONLeigh syndromedystoniaataxia
References
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- 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.
- 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.
- Shemesh A, Sood G, Blair K, Margolin E. Leber Hereditary Optic Neuropathy (LHON). StatPearls [Internet]. Treasure Island (FL): StatPearls 2024 Jan. 2024 Mar 1.
- 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.
- 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.
