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. 2024 Feb 27;15:1758. doi: 10.1038/s41467-024-45933-5

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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 — a Pictures of affected individuals: An 8-year-old affected girl from family F1 (F1-II:1) displaying an abnormal posture with left dissymmetry and difficulties in raising her arms. Affected sibling from family 4 (F4-II:2; 16-year-old) and family 12 (F12-II:2; 8-year-old) are permanently bound to wheelchair and artificial respiratory devices exhibiting severe disability. b Brain magnetic resonance imaging (MRI) of affected individuals from family 5 (F5-II:4; 22-month-old) and family 10 (F10-II:1, 3-year-old) revealed cerebellar atrophy and white matter hyperintensities (white arrows), respectively. c Pedigree of fifteen families segregating autosomal recessive muscular dystrophy. Double lines indicate a consanguineous marriage. Filled black symbols and crossed symbols indicate affected and deceased individuals, respectively while triangle indicates miscarriage. Compound heterozygous variants are presented based on their parental origin and SNUPN variant coordinates are provided. d Immunohistochemistry of skeletal muscle from patient F1-II:1 and F2-II:1: Hematoxylin and eosin (H&E) and modified Gomori Trichrome (mGT) images revealed muscle fibers with an atrophic appearance, displaying heterogeneity in size and shape. Additionally, some fibers exhibited a centralized nucleus and intense cytoplasmic staining. Succinate dehydrogenase (SDH) staining demonstrated a reduction in oxidative enzymatic activity, as indicated by reduced staining, in numerous muscle fibers in both patients. Scale bar, 100 μm. The images shown are representative of stainings on single muscle biopsy in each indicated patient. No independent replicates were performed.