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Supplement Material for: Pathogenicity of Variant m.13528A>G in MT-ND5 in Leber’s Hereditary Optic Neuropathy Is Unsupported

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DataCite Commons2025-06-01 更新2024-08-26 收录
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https://karger.figshare.com/articles/dataset/Supplement_Material_for_Pathogenicity_of_Variant_m_13528A_G_in_MT-ND5_in_Leber_s_Hereditary_Optic_Neuropathy_Is_Unsupported/24088020/1
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资源简介:
With interest we read the article by Pandya et al. [<strong>1</strong>] on a 57-year-old male who was diagnosed with Leber’s hereditary optic neuropathy (LHON) due to the variant m.13528A&gt;G in <em>MT-ND5</em>. Although the patient did not receive idebenone, visual acuity improved by the 24-month follow-up [<strong>1</strong>]. The study is excellent but has limitations that are cause of concerns and should be discussed. The CARE Checklist has been completed by the authors for this report, attached as supplementary material (for all online suppl. material, see <strong>https://doi.org/10.1159/000531387</strong>).
提供机构:
Karger Publishers
创建时间:
2023-09-06
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