DNAJC30 biallelic mutations extend mitochondrial complex I–deficient phenotypes to include recessive Leber’s hereditary optic neuropathy
Author:
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://www.jci.org/articles/view/147734/files/pdf
Reference24 articles.
1. Mitochondrial dysfunction in ocular disease: Focus on glaucoma
2. Mitochondrial genetics and optic neuropathy;Wiggs;Annu Rev Vis Sci,2015
3. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
4. Leber hereditary optic neuropathy-new insights and old challenges;Sundaramurthy;Graefes Arch Clin Exp Ophthalmol
5. Visual Outcomes in Leber Hereditary Optic Neuropathy Patients With the m.11778G>A (MTND4) Mitochondrial DNA Mutation
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3. Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals;Frontiers in Neurology;2023-12-01
4. Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome;Journal of Neurology;2023-03-20
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