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. 2025 Jun 23;272(7):473.
doi: 10.1007/s00415-025-13214-w.

Autosomal recessive Bethlem myopathy: a 30-year journey

Annamaria Gallone #  1 , Giorgia Riolo #  2 , Alessandra Ruggieri  3 , Eliana Iannibelli  3 , Franco Salerno  3 , Lucia Nicolini De Gaetano  3 , Alessandra Carnazzi  3   4 , Lorenzo Maggi  3 , Sara Gibertini  3
Affiliations

Autosomal recessive Bethlem myopathy: a 30-year journey

Annamaria Gallone et al. J Neurol. .
No abstract available

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Conflict of interest statement

Declarations. Conflicts of interest: All authors have no relevant financial or non-financial interests to disclose related to this work. However, L. M. received funding for travel, meeting attendance, and advisory board participation from Sanofi Genzyme, Roche, Biogen, Amicus Therapeutics, Alexion Pharmaceuticals, Janssen, UCB, Lupin, and Argenx. He also received funding for fellowship from Biogen and Alexion Pharmaceuticals. Ethics approval and consent to participate: Ethical approval was not required for this study as it is a retrospective analysis conducted within the routine clinical workflow. All data were collected as part of standard clinical care and were anonymized before analysis, in compliance with the current version of the Declaration of Helsinki as well as all national legal and regulatory requirements. Patients provided informed written consent. Consent for publication: Patients provided written consent for publication.

Figures

Fig. 1
Fig. 1
Family pedigree and electropherograms. A Family pedigree with black symbols indicating the affected members. The arrow indicates the proband. B Electropherograms in the proband, in the mother and the father. The red arrows indicate the variants
Fig. 2
Fig. 2
Immunofluorescence staining. A NADH and H&E staining in the proband’s muscle tissue (10X). B Skin fibroblasts treatment with ascorbic acid. The proband’s cells (III:2) presented the absence of secreted protein and collagen VI network; collagen staining was observable only in the cell’s cytoplasm as in NT well (63X). In her mother (II:2) and in the asymptomatic brother (III:3), a collagen VI fine network was visible in the extracellular matrix
See this image and copyright information in PMC

References

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