Nutrition strategies to improve physical capabilities in Duchenne muscular dystrophy.
Nutrition strategies to improve physical capabilities in Duchenne muscular dystrophy.
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DOI:
10.1016/j.pmr.2011.11.010
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发表时间:
2012-02
影响因子:
1.7
通讯作者:
Grange, Robert W.
中科院分区:
文献类型:
--
作者:
Davoodi, J.;Markert, C. D.;Voelker, K. A.;Hutson, S. M.;Grange, Robert W.
Duchenne muscular dystrophy (DMD) is a lethal, X-linked recessive, muscle-wasting disease1 caused by mutations in the dystrophin gene, located on chromosome Xp21. Mutations of the dystrophin gene result in the absence of the dystrophin protein, which leads to an impaired linkage between the F-actin cytoskeleton and the extracellular matrix protein laminin 2 via the membrane-bound dystrophin-glycoprotein complex (DGC). 2, 3In the absence of dystrophin, the mechanical links from the cytoskeleton of the muscle cell to the membrane and the components of the DGC are absent. 4 Progressive and ultimately fatal rounds of skeletal muscle degeneration and regeneration are hypothesized to result from either a fragile or weakened skeletal muscle membrane5, 6 or altered cell signaling.
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