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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. Among authors: krahe r. 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.
Molecular Diagnosis of Myotonic Dystrophy.
Chakraborty S, Vatta M, Bachinski LL, Krahe R, Dlouhy S, Bai S. Chakraborty S, et al. Among authors: krahe r. Curr Protoc Hum Genet. 2016 Oct 11;91:9.29.1-9.29.19. doi: 10.1002/cphg.22. Curr Protoc Hum Genet. 2016. PMID: 27727437
Premutation allele pool in myotonic dystrophy type 2.
Bachinski LL, Czernuszewicz T, Ramagli LS, Suominen T, Shriver MD, Udd B, Siciliano MJ, Krahe R. Bachinski LL, et al. Among authors: krahe r. Neurology. 2009 Feb 10;72(6):490-7. doi: 10.1212/01.wnl.0000333665.01888.33. Epub 2008 Nov 19. Neurology. 2009. PMID: 19020295 Free PMC article.
138 results