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Does complete deficiency of muscle α actinin 3 alter functional capacity in elderly women? A preliminary report
  1. A F San Juan,
  2. F Gomez-Gallego,
  3. S Cañete,
  4. C Santiago,
  5. M Pérez,
  6. A Lucia
  1. Universidad Europea de Madrid, Spain
  1. Correspondence to:
 Professor Lucia
 Universidad Europea de Madrid, Madrid 28670, Spain; alejandro.lucia{at}uem.es

Abstract

The sarcomeric protein α 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 α actinin 3 influences the deleterious effects of ageing on muscle output and functional capacity.

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  • Competing interests: none declared

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