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Original Article
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Volume 350:2682-2688 June 24, 2004 Number 26
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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.

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Muscle wasting and weakness are among the most common inherited and acquired disorders and include the muscular dystrophies, cachexia, and age-related wasting. Since there is no generally accepted treatment to improve muscle bulk and strength, these conditions pose a substantial burden to patients as well as to public health. Consequently, there has been considerable interest in a recently described inhibitor of muscle growth, myostatin, or growth/differentiation factor 8 (GDF-8), which belongs to the transforming growth factor {beta} superfamily of secreted proteins that control the growth and differentiation of tissues throughout the body. The myostatin gene is expressed almost exclusively in cells . . . [Full Text of this Article]

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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.


Related Letters:

Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
Catipovic B., Williams M. S., Uhlenberg B., Lucke B., Schuelke M.
Extract | Full Text | PDF  
N Engl J Med 2004; 351:1030-1031, Sep 2, 2004. Correspondence

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