CHARACTERIZATION OF DYSTROPHIN IN MUSCLE-BIOPSY SPECIMENS FROM PATIENTS WITH DUCHENNES OR BECKERS MUSCULAR-DYSTROPHY

被引：798

作者：

HOFFMAN, EP

FISCHBECK, KH

BROWN, RH

JOHNSON, M

MEDORI, R

LOIKE, JD

HARRIS, JB

WATERSTON, R

BROOKE, M

SPECHT, L

KUPSKY, W

CHAMBERLAIN, J

CASKEY, CT

SHAPIRO, F

KUNKEL, LM

机构：

[1] CHILDRENS HOSP MED CTR, HOWARD HUGHES MED INST, RES LABS, 300 LONGWOOD AVE, BOSTON, MA 02115 USA

[2] HARVARD UNIV, CHILDRENS HOSP, SCH MED, DIV GENET, BOSTON, MA 02115 USA

[3] HARVARD UNIV, SCH MED, DEPT PEDIAT, BOSTON, MA 02115 USA

[4] HOSP UNIV PENN, DEPT NEUROL, PHILADELPHIA, PA 19104 USA

[5] MASSACHUSETTS GEN HOSP, NEUROL SERV, BOSTON, MA 02114 USA

[6] NEWCASTLE GEN HOSP, MUSCULAR DYSTROPHY GRP LABS, NEWCASTLE UPON TYNE NE4 6BE, TYNE & WEAR, ENGLAND

[7] WASHINGTON UNIV, DIV NEUROL, ST LOUIS, MO 63130 USA

[8] WASHINGTON UNIV, DEPT GENET, ST LOUIS, MO 63130 USA

[9] COLUMBIA UNIV COLL PHYS & SURG, DEPT PHYSIOL & CELLULAR BIOPHYS, NEW YORK, NY 10032 USA

[10] CHILDRENS HOSP MED CTR, DEPT NEUROL, BOSTON, MA 02115 USA

[11] CHILDRENS HOSP MED CTR, DEPT PATHOL, BOSTON, MA 02115 USA

[12] CHILDRENS HOSP MED CTR, DEPT ORTHOPAED SURG, BOSTON, MA 02115 USA

[13] BAYLOR COLL MED, TEXAS MED CTR, ROBERT J KLEBERG JR CTR HUMAN GENET, HOUSTON, TX 77030 USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1988年 / 318卷 / 21期

关键词：

D O I：

10.1056/NEJM198805263182104

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1363 / 1368

页数：6

共 25 条

[1]

BECKER P E, 1955, Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr, V193, P427, DOI 10.1007/BF00343141

[2] MUSCULAR-DYSTROPHY IN GIRLS WITH X-AUTOSOME TRANSLOCATIONS [J].

BOYD, Y ;

BUCKLE, V ;

HOLT, S ;

MUNRO, E ;

HUNTER, D ;

CRAIG, I .

JOURNAL OF MEDICAL GENETICS, 1986, 23 (06) :484-490

[3] HYPOXANTHINE AND MCARDLE DISEASE - A CLUE TO METABOLIC STRESS IN THE WORKING FOREARM [J].

BROOKE, MH ;

PATTERSON, VH ;

KAISER, KK .

MUSCLE & NERVE, 1983, 6 (03) :204-206

[4] CLINICAL-TRIAL IN DUCHENNE DYSTROPHY .1. THE DESIGN OF THE PROTOCOL [J].

BROOKE, MH ;

GRIGGS, RC ;

MENDELL, JR ;

FENICHEL, GM ;

SHUMATE, JB ;

PELLEGRINO, RJ .

MUSCLE & NERVE, 1981, 4 (03) :186-197

[5] A CDNA CLONE FROM THE DUCHENNE BECKER MUSCULAR-DYSTROPHY GENE [J].

BURGHES, AHM ;

LOGAN, C ;

HU, XY ;

BELFALL, B ;

WORTON, RG ;

RAY, PN .

NATURE, 1987, 328 (6129) :434-437

[6] DUCHENNE MUSCULAR-DYSTROPHY IN ONE OF MONOZYGOTIC TWIN GIRLS [J].

BURN, J ;

POVEY, S ;

BOYD, Y ;

MUNRO, EA ;

WEST, L ;

HARPER, K ;

THOMAS, D .

JOURNAL OF MEDICAL GENETICS, 1986, 23 (06) :494-500

[7]

Duchenne G, 1868, ARCH GEN MED, V11, P179

[8]

Duchenne G.B.A., 1868, ARCH GEN MED, V11, P305

[9]

Duchenne G.B.A., 1868, ARCH GEN MED, V11, P421

[10]

Duchenne G.B.A., 1868, ARCHIVE GENERALES ME, V11, P5

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