The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Bladen, Catherine L.; Salgado, David; Monges, Soledad; Foncuberta, María Eugenia; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna J.; Chamova, Teodora; Guergueltcheva, Velina; Chan, H.S.; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lähdetie, Jaana; Walter, Maggie C.; Schreiber‐Katz, Olivia; Karcagi, Veronika; Garami, Marta; Viswanathan, Venkatarman; Bayat, Farhad; Buccella, Filippo; Kimura, En; Koeks, Zaïda; Bergen, J.C. van den; Rodrigues, Miriam; Roxburgh, Richard; Łusakowska, Anna; Kostera‐Pruszczyk, Anna; Zimowski, Janusz; Santos, Rosário; Neagu, Elena; Artemieva, Svetlana; Rašić, Vedrana Milić; Vojinović, Dina; Paz, Manuel Posada de la; Bloetzer, Clemens; Jeannet, P.Y.; Joncourt, Franziska; Díaz‐Manera, Jordi; Gallardo, Eduard; Karaduman, Ayşen; Topaloğlu, Haluk; Sherif, Rasha El; Stringer, Angela; Shatillo, Andriy; Martin, Ann; Peay, Holly L.; Bellgard, M.; Kirschner, Janbernd; Flanigan, Kevin M.; Straub, Volker; Bushby, Kate; Verschuuren, Jan J.G.M.; Aartsma‐Rus, Annemieke; Béroud, Christophe; Lochmüller, Hanns

doi:10.1002/humu.22758

articleHuman MutationJan 21, 2015BRONZE OA

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

CLCatherine L. Bladen DSDavid Salgado SMSoledad Monges MEMaría Eugenia Foncuberta KKKyriaki Kekou

Muscular Dystrophy UK · Inserm · +44 more institutions

PubMed

Indexed incrossrefpubmed

Abstract

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There…

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Keywords

Duchenne muscular dystrophy
Biology
Muscular dystrophy
Genetics

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