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. 2022 Jan 28;7:9. doi: 10.1038/s41525-021-00277-7

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© The Author(s) 2022

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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 8 — a Western blot showing moderate reduction in TIMMDC1 protein level in the affected male III-6 LCLs (lane 1) compared to the unaffected family members (lanes 2–7). b Western blot showing significant reduction in TIMMDC1 protein level in the affected male (III-6) and female (III-2) fibroblasts (lanes 1, 2) compared to the unaffected carrier parents (II-1 and II-2; lanes 3, 4) and unrelated healthy controls (lanes 5–7). Low levels of TIMMDC1 protein—that was undetectable in shorter exposure—were seen in—the affected (lanes 1, 2) compared to the two carrier-parent (lane 3, 4) fibroblasts. Note that as the parents are heterozygous for the c.597-1340A>G variant, the TIMMDC1 protein level is lower than the unrelated control fibroblasts without this variant. Housekeeping protein β-tubulin was used as a loading control.