Muscle spectrin
- PMID: 40846465
- PMCID: PMC12599393
- DOI: 10.1113/JP289732
Muscle spectrin
Keywords: cytoskeleton; muscle; neuromuscular junction.
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Comment on
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Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy.J Physiol. 2025 Sep;603(17):4907-4910. doi: 10.1113/JP289522. Epub 2025 Aug 22. J Physiol. 2025. PMID: 40842327 No abstract available.
- J Physiol.
References
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- De Winter J, Palmio J, Schuelke M, Udd B, Stenzel W & Baets J. (2025a). Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy. J Physiol (Lond) in press. - PubMed
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- De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, Stojkovic T, Hackman P, Johari M, Palmio J, Waldrop MA, Meyer AP, Nicolau S, Flanigan KM, Topf A, Diaz-Manera J, Straub V, Longman C, McWilliam CA, Orbach R, Verma S, Laine R, Donkervoort S, Bonnemann CG, Rebelo A, Zuchner S, Grider T, Shy ME, Maystadt I, Demurger F, Cairns A, Beecroft S, Folland C, De Ridder W, Ravenscroft G, Bonne G, Udd B & Baets J. (2025b). Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy. Genetics in medicine : official journal of the American College of Medical Genetics 27, 101399. - PubMed
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