Using 50kb flanking regions in the analysis of EAs, the top-ranked (#1) risk pathway was the 'cell-extracellular matrix interactions' pathway (RSU1, LIMS1, LIMS2, ARHGEF6, FERMT2, ACTN1, BLIM1, FLNC, ITGB1, PXN, FLNA, VASP, ILK, TESK1, PARVB, and PARVA) (p < 2.0E-4).
Em humanos quatro genes sao responsaveis pela traducao da a-actinina (ACTN1, 2, 3 e 4), sendo as isoformas 2 e 3 constituintes do citoesqueleto muscular.