Significant differences of the MMP-3 5A/6A polymorphism (rs3025058) were also detected between familial MMD patients and controls both in the dominant genetic model (OR = 0.23, 95% confidence interval 0.08–0.68, pcorr = 0.048) and the additive genetic model (OR = 0.24, 95% confidence interval 0.08–0.69, pcorr = 0.048). The gene discussed is MMP3; the disease is multiminicore myopathy.