Skip to content
VuFind
    • English
    • Deutsch
    • Español
    • Français
    • Italiano
    • 日本語
    • Nederlands
    • Português
    • Português (Brasil)
    • 中文(简体)
    • 中文(繁體)
    • Türkçe
    • עברית
    • Gaeilge
    • Cymraeg
    • Ελληνικά
    • Català
    • Euskara
    • Русский
    • Čeština
    • Suomi
    • Svenska
    • polski
    • Dansk
    • slovenščina
    • اللغة العربية
    • বাংলা
    • Galego
    • Tiếng Việt
    • Hrvatski
    • हिंदी
    • Հայերէն
    • Українська
    • Sámegiella
    • Монгол
Advanced
  • Commentary: Case report: Optic...
  • Cite this
  • Text this
  • Email this
  • Print
  • Export Record
    • Export to RefWorks
    • Export to EndNoteWeb
    • Export to EndNote
  • Permanent link
Commentary: Case report: Optic atrophy and nephropathy with m.13513G>A/MT-ND5 mtDNA pathogenic variant

Commentary: Case report: Optic atrophy and nephropathy with m.13513G>A/MT-ND5 mtDNA pathogenic variant

Bibliographic Details
Main Author: Josef Finsterer
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Genetics
Subjects:
mtDNA
complex-I
LHON
multisystem
heteroplasmy
m.13513G>A
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.988122/full
  • Holdings
  • Description
  • Similar Items
  • Staff View

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.988122/full

Similar Items

  • Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant
    by: Valentina Barone, et al.
    Published: (2022-06-01)
  • Carriers of POLG1 variants require investigations for multisystem disease and for mtDNA variations
    by: Josef Finsterer, et al.
    Published: (2022-07-01)
  • mtDNA Heteroplasmy: Origin, Detection, Significance, and Evolutionary Consequences
    by: Maria-Eleni Parakatselaki, et al.
    Published: (2021-06-01)
  • Commentary: New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2
    by: Josef Finsterer
    Published: (2019-06-01)
  • Commentary: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with an MT-TL1 m.3243A>G point mutation: neuroradiological features and their implications for underlying pathogenesis
    by: Josef Finsterer, et al.
    Published: (2023-04-01)

Search Options

  • Search History
  • Advanced Search

Find More

  • Browse the Catalog
  • Browse Alphabetically
  • Explore Channels
  • Course Reserves
  • New Items

Need Help?

  • Search Tips
  • Ask a Librarian
  • FAQs