Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect
Linda L. Bachinski(Baylor College of Medicine), Ralf Krahe(University of Helsinki), Riitta Sallinen(Folkhälsans Forskningscentrum), Guillaume Bassez(Centre Hospitalier Universitaire Henri-Mondor), Thomas Wieser, Peter S. Harper(University Hospital of Wales), Charles A. Thornton(University of Rochester Medical Center), G. Meola(IRCCS Policlinico San Donato), B. Eymard(University Hospital of Basel), Mark D. Shriver(Pennsylvania State University), Shanxiang Zhang(Indiana University School of Medicine), Bjarne Udd(Folkhälsans Forskningscentrum), Josep Gámez(Université Paris-Sud), Armand Bottani(University Hospital of Geneva), Maija Wessman(University of Helsinki), Karin Jurkat‐Rott(Universität Ulm), Richard T. Moxley(Unknown), Mark T. Rogers, André Köhler(University Hospital of Geneva), Frank Lehmann‐Horn(Universität Ulm), Fred A. Wright(North Carolina State University), Carmen Navarro(Hospital Universitario Virgen Macarena), Valeria Sansone(University of Milan)
Cited by 140
Related Papers
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
|Science|2015|5.7k
The human transcriptome across tissues and individuals
|Science|2015|1.4k
Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis
|New England Journal of Medicine|2018|1.4k
Aberrant CpG-island methylation has non-random and tumour-type–specific patterns
|Nature Genetics|2000|1.4k
Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE
|JNCI Journal of the National Cancer Institute|2013|946