Relationship between genotype and phenotype of patients with the diagnosis of Duchenne's muscular dystrophy

被引：0

作者：

Fajkusova, L

Hajek, J

Kuhrova, V

Fajkus, J

机构：

[1] VYZKUMNY USTAV ZDRAVI DITETE,BRNO 66262,CZECH REPUBLIC

[2] FAK DETSKA NEMOCNICE,BRNO,CZECH REPUBLIC

[3] AVCR,BIOFYZ USTAV,BRNO,CZECH REPUBLIC

来源：

CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE | 1997年 / 60卷 / 05期

关键词：

DMD; BMD; dystrophin; multiplex PCR;

D O I：

暂无

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Exon deletions were mapped in patients diagnosed for Duchenne's muscular dystrophy using multiplex polymerase chain reaction (PCR) to find a possible genotype - phenotype correlation. In all positive cases, deletions were located in the distal part of the dystrophin gene, between exons 43 and 60. Our results suggest that the deletion extent is not decisive for the disease progression. The different disease progression is rather caused by a different impact of a given deletion on a reading frame.

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页码：236 / 239

页数：4

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