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

San Juan, A F; Gomez-Gallego, F; Cañete, S; Santiago, C; Pérez, M; Lucia, A · Br J Sports Med · 2006

cross_sectional · Level IV

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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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