Characterization of strength, endurance and lung function in subjects with neuromuscular diseases with the R577X polymorphism of the ACTN3 gene
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The ACTN3 R577X polymorphism determines the expression of alpha-actinin 3 protein in human muscle. The homozygous XX genotype fails to synthesize alpha-actinin 3 and is associated with lower muscle strength than the RR genotype. Neuromuscular diseases (NMD) ge... ...
