A study showed that the expression of DIAPH1 gene was significantly down-regulated in patients with ischemic stroke8, furthermore, a recent genetic association study using whole-gene exon sequencing identified rare damaging variants of DIAPH1 in 24-proband discovery cohort and an 84-proband validation cohort of non–East Asian patients with MMD. The gene discussed is DIAPH1; the disease is multiminicore myopathy.