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. 2025 Sep;603(17):4907-4910.
doi: 10.1113/JP289522. Epub 2025 Aug 22.

Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy

Jonathan De Winter  1   2   3 , Johanna Palmio  4 , Markus Schuelke  5   6 , Bjarne Udd  4   7 , Werner Stenzel  8 , Jonathan Baets  1   2   3
Affiliations

Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy

Jonathan De Winter et al. J Physiol. 2025 Sep.
No abstract available

Keywords: SPTAN1; SPTBN4; myopathy.

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References

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    1. Cortes, C. J., Ling, S. C., Guo, L. T., Hung, G., Tsunemi, T., Ly, L., Tokunaga, S., Lopez, E., Sopher, B. L., Bennett, C. F., Shelton, G. D., Cleveland, D. W., & La Spada, A. R. (2014). Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in spinal and bulbar muscular atrophy. Neuron, 82(2), 295–307.
    1. De Winter, J., van de Vondel, L., Ermanoska, B., Monticelli, A., Isapof, A., Cohen, E., Stojkovic, T., Hackman, P., Johari, M., Palmio, J., Waldrop, M. A., Meyer, A. P., Nicolau, S., Flanigan, K. M., Töpf, A., Diaz‐Manera, J., Straub, V., Longman, C., McWilliam, C. A., … Baets, J. (2025). Heterozygous loss‐of‐function variants in SPTAN1 cause an early childhood onset distal myopathy. Genetics in Medicine, 27(6), 101399.
    1. Derks, M. F. L., Harlizius, B., Lopes, M. S., Greijdanus‐van der Putten, S. W. M., Dibbits, B., Laport, K., Megens, H. J., & Groenen, M. A. M. (2019). Detection of a frameshift deletion in the SPTBN4 gene leads to prevention of severe myopathy and postnatal mortality in pigs. Frontiers in Genetics, 10, 1226.
    1. Drachman, D. B., Murphy, S. R., Nigam, M. P., & Hills, J. R. (1967). “Myopathic” changes in chronically denervated muscle. Archives of Neurology, 16(1), 14–24.

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