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Mitochondrial diseases.
Vu TH, Hirano M, DiMauro S. Vu TH, et al. Neurol Clin. 2002 Aug;20(3):809-39, vii-viii. doi: 10.1016/s0733-8619(01)00017-2. Neurol Clin. 2002. PMID: 12432831 Review.
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. Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29. Brain. 2013. PMID: 23543484 Free PMC article.