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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.
Myotonic disorders.
Lehmann-Horn F, Jurkat-Rott K. Lehmann-Horn F, et al. Handb Clin Neurol. 2007;86:61-76. doi: 10.1016/S0072-9752(07)86003-9. Handb Clin Neurol. 2007. PMID: 18808995 No abstract available.
Ion channels and epilepsy.
Lerche H, Jurkat-Rott K, Lehmann-Horn F. Lerche H, et al. Am J Med Genet. 2001 Summer;106(2):146-59. doi: 10.1002/ajmg.1582. Am J Med Genet. 2001. PMID: 11579435 Review.
131 results