Open AccessConfirmation 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
Author(s) -
Linda L. Bachinski,
Bjarne Udd,
G. Meola,
Valeria Sansone,
Guillaume Bassez,
Bruno Eymard,
Charles A. Thornton,
Richard T. Moxley,
Peter S. Harper,
Mark T. Rogers,
Karin JurkatRott,
Frank LehmannHorn,
Thomas Wieser,
Josep Gámez,
Carmen Navarro,
Armand Bottani,
André Fontan Köhler,
Mark D. Shriver,
Riitta Sallinen,
Maija Wessman,
Shanxiang Zhang,
Fred A. Wright,
Ralf Krahe
Publication year - 2003
Publication title -
carolina digital repository (university of north carolina at chapel hill)
Language(s) - English
DOI - 10.17615/gzep-km85
Subject(s) - myotonic dystrophy , haplotype , founder effect , genetics , myopathy , mutation , trinucleotide repeat expansion , biology , genotype , gene , allele