DIRECT MOLECULAR-GENETIC DIAGNOSIS AND HETEROZYGOTE IDENTIFICATION INX-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY BY HETERODUPLEX ANALYSIS

X-linked Emery-Dreifuss muscular dystrophy (EMD) is a very rare, relat ively benign muscle disorder. The disease is associated with potential ly lethal cardiac arrhythmias in affected males and some heterozygous females. X-linked EMD can be genetically distinguished from phenotypic ally similar autosomal EMD. Heterogenic mutations are identified as th e cause of X-linked EMD. We introduced heteroduplex analysis to follow the segregation of heterogenic emerin gene mutations in the families of six unrelated EMD patients. Heteroduplex analysis was proved to be a simple, fast and reliable tool for direct molecular genetic diagnosi s of EMD in male patients and identification of heterozygotes even in families where affected males are not available as index cases.