TY - JOUR
T1 - A gene for speed : the influence of ACTN3 on muscle performance in health and disease
AU - Houweling, P.
AU - Seto, J.
AU - Garton, F.
AU - Quinlan, K.
AU - Head, S.
AU - North, K.
PY - 2015
Y1 - 2015
N2 - 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.
AB - 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.
KW - proteins
KW - Duchenne muscular dystrophy
UR - http://handle.westernsydney.edu.au:8081/1959.7/uws:42986
U2 - 10.1016/j.nmd.2015.06.011
DO - 10.1016/j.nmd.2015.06.011
M3 - Article
SN - 0960-8966
VL - 25
SP - S185-S185
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - Supplement 2
ER -