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资源简介：
Collection of clinical and molecular data of 46 Italian subjects with a LHON-causing mutation in homoplasmy and 90 control subjects.
应用场景：
创建时间：
2018-09-26
相关数据集
Additional file 5 of Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
Additional file 5: Phenotypic and mutational spectrum of North African families with syndromic inherited optic neuropathies.
NIAID Data Ecosystem80
dataset related to article "Leber's Hereditary Optic Neuropathy: a report on novel mildly deleterious mtDNA point mutations" Peverelli L et al, Front in Neurol -Neuro-Ophthalmology 2021
CSV files containing the list of all the mitochondrial DNA variants found in probands from families 1-5 included in the study at title
NIAID Data Ecosystem30
Supplementary Material for: Two Novel Variants in MT-RNR1 Gene Associated with Hereditary Optic Neuropathy: A Case Report
Abstract Background: Hereditary optic neuropathies are primarily disorders of mitochondrial dysfunction leading to the metabolic failure of the highly energy-dependant retinal ganglion cells. Beyond
NIAID Data Ecosystem20
Supplement Material for: Pathogenicity of Variant m.13528A>G in MT-ND5 in Leber’s Hereditary Optic Neuropathy Is Unsupported
With interest we read the article by Pandya et al. [ 1 ] on a 57-year-old male who was diagnosed with Leber’s hereditary optic neuropathy (LHON) due to the variant m.13528A>G in
DataCite Commons2025-06-01 更新60
Supplement Material for: Pathogenicity of Variant m.13528A>G in MT-ND5 in Leber’s Hereditary Optic Neuropathy Is Unsupported
With interest we read the article by Pandya et al. [1] on a 57-year-old male who was diagnosed with Leber’s hereditary optic neuropathy (LHON) due to the variant m.13528A>G in MT-ND5. Although the pa
NIAID Data Ecosystem30
