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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R. Melià MJ, et al. Among authors: kubota a. Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29. Brain. 2013. PMID: 23543484 Free PMC article.
Fhl1 W122S causes loss of protein function and late-onset mild myopathy.
Emmanuele V, Kubota A, Garcia-Diaz B, Garone C, Akman HO, Sánchez-Gutiérrez D, Escudero LM, Kariya S, Homma S, Tanji K, Quinzii CM, Hirano M. Emmanuele V, et al. Among authors: kubota a. Hum Mol Genet. 2015 Feb 1;24(3):714-26. doi: 10.1093/hmg/ddu490. Epub 2014 Sep 30. Hum Mol Genet. 2015. PMID: 25274776 Free PMC article.
Correction to: RFC1‑related disorder presenting recurrent syncope.
Tsuboyama Y, Takahashi A, Furukawa S, Almansour A, Hamada M, Kubota A, Shimizu J, Kinoshita M, Fujimoto C, Mitsui J, Matsukawa T, Naruse H, Ishiura H, Tsuji S, Toda T. Tsuboyama Y, et al. Among authors: kubota a. J Neurol. 2024 May 27. doi: 10.1007/s00415-024-12394-1. Online ahead of print. J Neurol. 2024. PMID: 38802625 No abstract available.
851 results