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
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
收藏
页码:236 / 239
页数:4
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