DECREASED EXPRESSION OF MYOTONIN PROTEIN-KINASE MESSENGER-RNA AND PROTEIN IN ADULT FORM OF MYOTONIC-DYSTROPHY

被引：300

作者：

FU, YH

FRIEDMAN, DL

RICHARDS, S

PEARLMAN, JA

GIBBS, RA

PIZZUTI, A

ASHIZAWA, T

PERRYMAN, MB

SCARLATO, G

FENWICK, RG

CASKEY, CT

机构：

[1] BAYLOR COLL MED,INST MOLEC GENET,HOUSTON,TX 77030

[2] BAYLOR COLL MED,CARDIOL SECT,HOUSTON,TX 77030

[3] BAYLOR COLL MED,CTR HUMAN GENOME,HOWARD HUGHES MED INST,HOUSTON,TX 77030

[4] BAYLOR COLL MED,DEPT NEUROL,HOUSTON,TX 77030

[5] VET ADM MED CTR,HOUSTON,TX 77030

[6] UNIV MILAN,CTR DINO FERRARI,IST CLIN NEUROL,I-20122 MILAN,ITALY

来源：

SCIENCE | 1993年 / 260卷 / 5105期

关键词：

D O I：

10.1126/science.8469976

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The myotonic dystrophy mutation has recently been identified; however, the molecular mechanism of the disease is still unknown. The sequence of the myotonin-protein kinase gene was determined, and messenger RNA spliced forms were identified in various tissues. Antisera were developed for analytical studies. Quantitative reverse transcription-polymerase chain reaction and radioimmunoassay were used to demonstrate that decreased levels of the messenger RNA and protein expression are associated with the adult form of myotonic dystrophy.

引用

页码：235 / 238

页数：4

共 12 条

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