Myostatin mutation associated with gross muscle hypertrophy in a child.

@article{Schuelke2004MyostatinMA,
  title={Myostatin mutation associated with gross muscle hypertrophy in a child.},
  author={Markus Schuelke and Kathryn Rae Wagner and Leslie E. Stolz and Christoph H{\"u}bner and Thomas Riebel and Wolfgang K{\"o}men and Thomas Braun and James F. Tobin and Se-Jin Lee},
  journal={The New England journal of medicine},
  year={2004},
  volume={350 26},
  pages={
          2682-8
        }
}
Both acquired and inherited disorders of muscle are common; thus, greater understanding of muscle growth and maintenance is important for future therapies. Myostatin down-regulates muscle growth. These investigators describe a mutation in the gene for myostatin in a child with muscle hypertrophy and unusual strength. 
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The results show that the hypermusculature associated with myotonia in these families could not be attributed to modulation of muscle growth by variation in myostatin expression, and it is concluded that either mutations in the CLCN1 gene alone are sufficient to induce muscle hypertrophy in addition to myOTonia, or an alternative gene interaction with C LCN1 other than MSTN has to be sought. Expand
The paradox of muscle hypertrophy in muscular dystrophy.
TLDR
Deleterious consequences of muscle hypertrophy should be considered when developing treatments for muscular dystrophy. Expand
A phase I/IItrial of MYO‐029 in adult subjects with muscular dystrophy
TLDR
A safety trial of a neutralizing antibody to myostatin, MYO‐029, in adult muscular dystrophies (Becker muscular dystrophy, facioscapulohumeral dystrophia, and limb‐girdle muscular dy Strophy) is conducted. Expand
Identification and characterisation of novel genes involved in skeletal muscle hypertrophy
TLDR
This research identified and characterised several new genes that are important in the regulation of muscle growth and development. Expand
Myostatin, a negative regulator of muscle mass: implications for muscle degenerative diseases.
TLDR
Inhibition of myostatin using a variety of therapeutic approaches can increase muscle mass in a number of animal models of human disease, including muscular dystrophy. Expand
Myostatin in the Pathophysiology of Skeletal Muscle
TLDR
The recent developments and the controversies in myostatin research are discussed, focusing on the molecular and cellular mechanisms underlying the actions of myOSTatin on skeletal muscle and the potential therapeutic role of mystatin on muscle-related disorders. Expand
Powerful genes--myostatin regulation of human muscle mass.
  • E. McNally
  • Biology, Medicine
  • The New England journal of medicine
  • 2004
TLDR
A child with substantial muscle hypertrophy and a splice-site mutation in the gene encoding myostatin is described, which is a member of the transforming growth factor β (TGF-β) family. Expand
Myostatin regulation of muscle development: molecular basis, natural mutations, physiopathological aspects.
TLDR
The molecular pathway driving the myogenic mystatin influence is currently under extensive study and many molecular partners of myostatin have been identified, suggesting novel potent muscle growth enhancers for both human and agricultural applications. Expand
The myostatin gene: physiology and pharmacological relevance.
TLDR
It is concluded that myostatin inhibits myoblast proliferation and differentiation through a classical tumour growth factor-beta pathway involving the activin receptor ActRIIB and Smads 2 and 3 and promising data open the way to new therapeutic approaches in muscle diseases through targeting of theMyostatin pathway. Expand
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