Article

Does complete deficiency of muscle alpha actinin 3 alter functional capacity in elderly women? A preliminary report.

Universidad Europea de Madrid, Madrid, Spain.
British journal of sports medicine (impact factor: 2.55). 02/2006; 40(1):e1. DOI:10.1136/bjsm.2005.019539 pp.e1
Source: PubMed

ABSTRACT The sarcomeric protein alpha actinin 3 is localised to the Z line of fast fibres, which are responsible for generating forceful muscle contractions at high velocity. However, a substantial proportion of healthy humans are totally deficient in this protein as they are homozygous for a premature stop codon polymorphism (R577X) in the ACTN3 gene. The purpose of this preliminary study was to assess if the presence or absence of alpha actinin 3 influences the deleterious effects of ageing on muscle output and functional capacity.

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