Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant
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Title
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant
Authors
Keywords
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Journal
Frontiers in Genetics
Volume 13, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2022-06-03
DOI
10.3389/fgene.2022.887696
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Note: Only part of the references are listed.- Mitochondrial 13513G>A Mutation With Low Mutant Load Presenting as Isolated Leber's Hereditary Optic Neuropathy Assessed by Next Generation Sequencing
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- Central retinal vein occlusion as the initial manifestation of LHON / MELAS overlap syndrome with mitochondrial DNA G13513A mutation—Case report and literature review
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- Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders
- (2009) Valerio Carelli et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
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- Minisequencing mitochondrial DNA pathogenic mutations
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