THE IMPACT OF MOLECULAR-GENETICS ON THE CARE OF PATIENTS WITH MUSCLE DISEASE

Clinical medicine is currently undergoing an enormous upheaval as a re sult of molecular genetics. Identifying the gene causing a specific di sease almost immediately provides knowledge of the gene product and in sight into pathogenesis. Mutations of the gene and measurable abnormal ities of the gene product provide specific methods for diagnosis, pren atal counseling, and carrier detection. Perhaps, most importantly, new treatment strategies can be devised. In the review that follows, an u pdate is provided on molecular findings in muscle diseases and how the y can be applied in clinical practice.