The impact of molecular genetics on the care of patients with muscle disease

Clinical medicine is currently undergoing an enormous upheaval as a result of molecular genetics. Identifying the gene causing a specific disease almost immediately provides knowledge of the gene product and insight into pathogenesis. Mutations of the gene and measurable abnormalities of the gene product provide specific methods for diagnosis, prenatal counseling, and carrier detection. Perhaps, most importantly, new treatment strategies can be devised. In the review that follows, an update is provided on molecular findings in muscle diseases and how they can be applied in clinical practice.