Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.20449/fullpdf
Reference19 articles.
1. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations
2. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J
3. Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy
4. Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations
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2. Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants;BMJ Open Ophthalmology;2024-03
3. Optic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups;International Journal of Molecular Sciences;2023-01-05
4. Leber Hereditary Optic Neuropathy in Southwestern Ontario: A Growing List of Mutations;Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques;2022-07-27
5. Diagnosis of primary mitochondrial disorders -Emphasis on myopathological aspects;Mitochondrion;2021-11
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