LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy

• Published in: Annals of neurology Vol. 73; no. 4; pp. 481 - 488
• Main Authors: Flanigan, Kevin M., Ceco, Ermelinda, Lamar, Kay-Marie, Kaminoh, Yuuki, Dunn, Diane M., Mendell, Jerry R., King, Wendy M., Pestronk, Alan, Florence, Julaine M., Mathews, Katherine D., Finkel, Richard S., Swoboda, Kathryn J., Gappmaier, Eduard, Howard, Michael T., Day, John W., McDonald, Craig, McNally, Elizabeth M., Weiss, Robert B.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.04.2013; Wiley Subscription Services, Inc
• Subjects: Extracellular Matrix Proteins - metabolism; Female; Fibroblasts - drug effects; Fibroblasts - metabolism; Genetic Predisposition to Disease - genetics; Genetic Testing; Genotype; Glucocorticoids - pharmacology; Humans; Latent TGF-beta Binding Proteins - genetics; Male; Mobility Limitation; Muscular Dystrophy, Duchenne - drug therapy; Muscular Dystrophy, Duchenne - genetics; Muscular Dystrophy, Duchenne - physiopathology; Polymorphism, Single Nucleotide - genetics; Smad Proteins - metabolism

Objective Duchenne muscular dystrophy (DMD) displays a clinical range that is not fully explained by the primary DMD mutations. Ltbp4, encoding latent transforming growth factor‐β binding protein 4, was previously discovered in a genome‐wide scan as a modifier of murine muscular dystrophy. We sought...