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

Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, is a clinically and genetically heterogeneous neuromuscular disorder. DM is characterized by autosomal dominant inheritance, muscular dystrophy, myotonia, and multisystem involvement. Type 1 DM (DM1) is caused by a (CTG)(...

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Main Authors: Bachinski, Linda L., Udd, Bjarne, Meola, Giovanni, Sansone, Valeria, Bassez, Guillaume, Eymard, Bruno, Thornton, Charles A., Moxley, Richard T., Harper, Peter S., Rogers, Mark T., Jurkat-Rott, Karin, Lehmann-Horn, Frank, Wieser, Thomas, Gamez, Josep, Navarro, Carmen, Bottani, Armand, Kohler, Andre, Shriver, Mark D., Sallinen, Riitta, Wessman, Maija, Zhang, Shanxiang, Wright, Fred A., Krahe, Ralf
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2003
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180606/
https://ncbi.nlm.nih.gov/pubmed/12970845
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