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

被引:5
作者
NADKARNI, N [1 ]
PRIOR, TW [1 ]
MENDELL, JR [1 ]
机构
[1] OHIO STATE UNIV, COLL MED,DEPT NEUROL,463 MEANS HALL,1654 UPHAM DR, COLUMBUS, OH 43210 USA
关键词
D O I
10.1097/00019052-199410000-00012
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
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页码:435 / 447
页数:13
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