Genetic counseling concerning the risk of cardiac disease in asymptomatic female carriers of the X-linked EDMD gene mutation can prevent sudden cardiac death in family members. The upper photomicrograph is a muscle biopsy with normal emerin immunostaining. Note the absence of nuclear staining as well as the hypertrophied and atrophied muscle fibers. The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane. Medicine is a constantly changing science and not all therapies are clearly established.
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