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Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.
Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, Jurkat-Rott K, Lehmann-Horn F, Wieser T, Gamez J, Navarro C, Bottani A, Kohler A, Shriver MD, Sallinen R, Wessman M, Zhang S, Wright FA, Krahe R. Bachinski LL, et al. Am J Hum Genet. 2003 Oct;73(4):835-48. doi: 10.1086/378566. Epub 2003 Sep 10. Am J Hum Genet. 2003. PMID: 12970845 Free PMC article.
Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2.
Vihola A, Bassez G, Meola G, Zhang S, Haapasalo H, Paetau A, Mancinelli E, Rouche A, Hogrel JY, Laforêt P, Maisonobe T, Pellissier JF, Krahe R, Eymard B, Udd B. Vihola A, et al. Neurology. 2003 Jun 10;60(11):1854-7. doi: 10.1212/01.wnl.0000065898.61358.09. Neurology. 2003. PMID: 12796551 Free article.