A gene for speed : the influence of ACTN3 on muscle performance in health and disease

P. Houweling, J. Seto, F. Garton, K. Quinlan, S. Head, K. North

Research output: Contribution to journalArticlepeer-review

Abstract

α-Actinin-3 is a fast fibre Z-line protein that interacts with a wide array of structural, metabolic and signalling proteins. A common ACTN3 null polymorphism (R577X) is the most widely studied and best replicated genetic variant known to influence the skeletal muscle performance. ACTN3 genotype contributes ~2.5% of the variance in human muscle strength and exercise training response, is a risk factor for falling in the elderly and a genetic modifier of muscle disorders such as Duchenne muscular dystrophy.
Original languageEnglish
Pages (from-to)S185-S185
Number of pages1
JournalNeuromuscular Disorders
Volume25
Issue numberSupplement 2
DOIs
Publication statusPublished - 2015

Keywords

  • proteins
  • Duchenne muscular dystrophy

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