Deficiency of a-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling
نویسندگان
چکیده
Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Locked Bag 4001, Sydney, NSW 2145, Australia, Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia, Centre for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA and School of Medical Sciences, University of New South Wales, Sydney NSW 2052, Australia
منابع مشابه
Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.
Sarcomeric α-actinins (α-actinin-2 and -3) are a major component of the Z-disk in skeletal muscle, where they crosslink actin and other structural proteins to maintain an ordered myofibrillar array. Homozygosity for the common null polymorphism (R577X) in ACTN3 results in the absence of fast fiber-specific α-actinin-3 in ∼20% of the general population. α-Actinin-3 deficiency is associated with ...
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تاریخ انتشار 2011