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The diagnosis of X-linked EDMD is normally confirmed by genetic analysis of the STA gene coding for emerin.We propose immunocytochemical evaluation of the emerin expression in skin biopsies as a sensitive and more convenient tool for diagnosing X-linked EDMD and,in particular,for distinguishing it from the autosomal dominant form.This technique may be applied to suspected EDMD patients,especially sporadic cases or those with incomplete clinical phenotype and also suspected carriers.Immunoblot of peripheral blood cells is also useful,but it may not unequivocally identify carriers and some patients. |
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