The effect of α-actinin 3 deficiency on regulation of skeletal muscle mass in health and disease.

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A common genetic variant results in absence of the fast muscle fibre protein α-actinin-3 in more than one billion humans worldwide. Loss of α-actinin-3 influences elite athletic performance, muscle bulk and strength in the general population, and disease severity in muscle wasting conditions. The goal of this study is to understand how α-actinin-3 regulates muscle mass so that individuals at increased risk of muscle wasting may be identified and treated accordingly.