Central retinal vein occlusion as the initial manifestation of LHON / MELAS overlap syndrome with mitochondrial DNA G13513A mutation—Case report and literature review
Author:
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.3109/13816810.2010.531880
Reference43 articles.
1. Leber's hereditary optic neuropathy: A multifactorial disease
2. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
3. The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS
4. Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy
5. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?
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1. Mitochondrial DNA 13513G>A Mutation Causing Leber Hereditary Optic Neuropathy Associated With Adult-Onset Renal Failure;Journal of Neuro-Ophthalmology;2023-07-21
2. Phenotypic Heterogeneity of the Mitochondrial DNA Variant m.13513 G > A;Journal of Pediatric Genetics;2023-04-27
3. Leber Mitochondrial Optic Neuropathy in Pediatric Females With Focus on Very Early Onset Cases;Journal of Child Neurology;2023-01-19
4. Rare pathogenic nucleotide variants of mitochondrial DNA associated with Leber’s hereditary optic neuropathy;Vestnik oftal'mologii;2023
5. Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant;Frontiers in Genetics;2022-06-03
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