BECKER MUSCULAR-DYSTROPHY - CORRELATION OF DELETION TYPE WITH CLINICAL SEVERITY

被引：24

作者：

NORMAN, AM ^{[1
]}

THOMAS, NST ^{[1
]}

KINGSTON, HM ^{[1
]}

HARPER, PS ^{[1
]}

机构：

[1] ST MARYS HOSP,REG GENET CTR,MANCHESTER M13 0JH,LANCS,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 04期

关键词：

D O I：

10.1136/jmg.27.4.236

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Molecular deletion screening with cDNA probes from the dystrophin gene was undertaken in patients with Becker muscular dystrophy from 58 separate families. Deletions were found in 41 (71%) of these families. Thirty-four (83%) of the deletions started in the same intron near the centre of the gene, and although there was no precise correlation between clinical severity and deletion pattern, the commonest deletion pattern, which was present in 49% of all deletion families, is associated with a mild phenotype.

引用

页码：236 / 239

页数：4

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