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. 2023 Jul 5;18:177. doi: 10.1186/s13023-023-02780-9

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© The Author(s) 2023, corrected publication 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 2 — MRI-based imaging findings in patients. A-B) Patient with PLA2G6 due to c.2370 T > G and c.1516G > A variants; Axial T2-weighted images indicate hypointensity of the Globus pallidus (a) and substantia nigra (b) denoting iron deposition at the age of 11 years. c, d Patient with PLA2G6 due to c.668C > T variant; Axial T2 & T1-weighted images show white matter hypomyelination at the age of 4 years. e, f Patients with PLA2G6 due to c.668C > T variant and c.668C > T variant; Axial and sagittal T2-weighted images show cerebral atrophy and cerebellar atrophy at the age of 4 years. g Patient with PLA2G6 due to c.668C > T variant; Thinning of corpus callosum and calval hypertrophy at the age of 4 years. h Patient with PLA2G6 due to c.668C > T variant; The initial stage of optic atrophy on axial FLAIR sequence at the age of 4 years