Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
Markus Schuelke, M.D., Kathryn R. Wagner, M.D., Ph.D., Leslie E. Stolz, Ph.D., Christoph Hübner, M.D., Thomas Riebel, M.D., Wolfgang Kömen, M.D., Thomas Braun, M.D., Ph.D., James F. Tobin, Ph.D., and Se-Jin Lee, M.D., Ph.D.
Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.
Muscle wasting and weakness are among the most common inheritedand acquired disorders and include the muscular dystrophies,cachexia, and age-related wasting. Since there is no generallyaccepted treatment to improve muscle bulk and strength, theseconditions pose a substantial burden to patients as well asto public health. Consequently, there has been considerableinterest in a recently described inhibitor of muscle growth,myostatin, or growth/differentiation factor 8 (GDF-8), whichbelongs to the transforming growth factor superfamily of secretedproteins that control the growth and differentiation of tissuesthroughout the body. The myostatin gene is expressed almostexclusively in cells . . . [Full Text of this Article]
Case Report
Methods
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From the Departments of Neuropediatrics (M.S., C.H.), Pediatric Radiology (T.R.), and Neonatology (W.K.), Charité, University Medical Center Berlin, Berlin; the Departments of Neurology (K.R.W.) and Molecular Biology and Genetics (S.-J.L.), Johns Hopkins University School of Medicine, Baltimore; the Department of Cardiovascular and Metabolic Diseases, Wyeth Research, Cambridge, Mass. (L.E.S., J.F.T.); and the Institute of Physiological Chemistry, Martin Luther University, Halle-Wittenberg, Germany (T.B.).
Address reprint requests to Dr. Schuelke at the Department of Neuropediatrics, Charité, University Medical Center Berlin, Augustenburger Platz 1, D-13353 Berlin, Germany, or at markus.schuelke@charite.de.
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