Distinct Magnetic Resonance Imaging in a Child With a TACO1 Variant
Author:
Affiliation:
1. Department of Child and Youth, Randers Regional Hospital, Randers, Denmark
2. Department of Radiology, Neuro Section, Aarhus University Hospital, Aarhus, Denmark
Abstract
Publisher
American Medical Association (AMA)
Link
https://jamanetwork.com/journals/jamaneurology/articlepdf/2818472/jamaneurology_herskind_2024_im_240009_1725483573.31488.pdf
Reference4 articles.
1. Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.;Weraarpachai;Nat Genet,2009
2. U-Fiber leukoencephalopathy due to a novel mutation in the TACO1 gene.;Sferruzza;Neurol Genet,2021
3. Confirmation of TACO1 as a Leigh syndrome disease gene in two additional families.;Oktay;J Neuromuscul Dis,2020
4. Clinical and neuropathological findings in patients with TACO1 mutations.;Seeger;Neuromuscul Disord,2010
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