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. 2024 Oct 28;12:171. doi: 10.1186/s40478-024-01878-w

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© The Author(s) 2024

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/.

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Fig. 1 — Pedigrees of patients with DNAJB4 variants. (a) Pedigrees of five families demonstrating consanguinity and recessively inherited myopathy. The genotype of the patient(s) is represented with the pedigree. Below each symbol, the genotype is annotated: “del” indicates a deletion. (b) X-ray image of P4 at 15 years of age, showing thoracic lumbar scoliosis. (c) Muscle magnetic resonance images of P3 at 14 years of age. Axial thigh muscle images of T1-weighted image (T1WI, upper image) and T2-weighted fat-saturated image (T2FS, lower image). High intensity in the semimembranosus muscle (arrows) is observed in both T1WI and T2FS, whereas the adductor longus shows high signal intensity only in T2FS (arrow)