Article
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Human mutation - 1 Dec 2009
Flanigan Kevin M, Dunn Diane M, von Niederhausern Andrew, Soltanzadeh Payam, Gappmaier Eduard, Howard Michael T, Sampson Jacinda B, Mendell Jerry R, Wall Cheryl, King Wendy M, Pestronk Alan, Florence Julaine M, Connolly Anne M, Mathews Katherine D, Stephan Carrie M, Laubenthal Karla S, Wong Brenda L, Morehart Paula J, Meyer Amy, Finkel Richard S, Bonnemann Carsten G, Medne Livija, Day John W, Dalton Joline C, Margolis Marcia K, Hinton Veronica J, Weiss Robert B
Abstract excerpt
Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked Dilated Cardiomyopathy (XLDC). Mutation analysis has traditionally been challenging, due to the large gene size (79 exons over 2.2 Mb of genomic DNA). We report a very large aggregate data set comprised of DMD mutations detected in...
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