A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.

Actinin/deficiency,genetics,metabolism Blotting, Western Codon, Nonsense Codon, Terminator Deoxyribonucleases, Type II Site-Specific/genetics Gene Frequency Genetics, Population Homozygote Humans Immunohistochemistry Linkage Disequilibrium Male Muscle Fibers, Skeletal/metabolism,pathology Muscle, Skeletal/metabolism,pathology Muscular Dystrophies/genetics Mutation Neuromuscular Diseases/genetics Protein Isoforms/genetics,metabolism Reverse Transcriptase Polymerase Chain Reaction

ACTN3 protein, human Codon, Nonsense Codon, Terminator Protein Isoforms Actinin endodeoxyribonuclease DdeI Deoxyribonucleases, Type II Site-Specific