DYSTROPHIN EXPRESSION AND GENOTYPIC ANALYSIS OF 2 CASES OF BENIGN X-LINKED MYOPATHY (MCLEODS SYNDROME)

被引：18

作者：

CARTER, ND

MORGAN, JE

MONACO, AP

SCHWARTZ, MS

JEFFERY, S

机构：

[1] CHARING CROSS HOSP,SCH MED,DEPT HISTOPATHOL,FULHAM PALACE RD,LONDON W6 8RF,ENGLAND

[2] IMPERIAL CANC RES FUND,GENOME ANAL LAB,LONDON WC2A 3PX,ENGLAND

[3] ST GEORGE HOSP,SCH MED,DEPT NEUROL,LONDON SW17 0RE,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 06期

关键词：

D O I：

10.1136/jmg.27.6.345

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

DNA extraction and Southern blot analysis of two cases of McLeod's syndrome showed restriction fragments identical to normal controls using probes from the Xp21 (1-2) region, in contrast to striking deletions found in two other McLeod phenotypes studied in the USA. The McLeod locus is adjacent to Duchenne muscular dystrophy (DMD) and dystrophin immunocytochemistry showed that expression is normal in muscle from the two McLeod cases in spite of the mild DMD-like myopathy.

引用

页码：345 / 347

页数：3

共 7 条

[1]

BERTELSON CJ, 1988, AM J HUM GENET, V42, P703

[2] ASSOCIATION OF DYSTROPHIN AND AN INTEGRAL MEMBRANE GLYCOPROTEIN [J].