Is the variant m.9176T > C in MT‐ATP6 truly responsibly for Leigh syndrome?
Author:
Affiliation:
1. Messerli Institute Klinikum Landstrasse Vienna Austria
Publisher
Wiley
Subject
Pediatrics, Perinatology, and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.14383
Reference5 articles.
1. Late‐onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATP ase 6 gene
2. Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder;Finsterer J;Rev. Med. Chil.,2015
3. A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy
4. Pathogenic variants in MT‐ATP6 : A United Kingdom–based mitochondrial disease cohort study
5. Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene
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1. Reply to the letter: “Is the variant m.9176T>C in MT‐ATP6 truly responsibly for Leigh syndrome?”;Pediatrics International;2021-02
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