Duchenne and Becker muscular dystrophies

被引：2

作者：

Grimm, T. ^{[1
]}

Kress, W.

Meng, G.

Mueller-Reible, C. R.

机构：

[1] Univ Wurzburg, Abt Med Genet, D-97074 Wurzburg, Germany

来源：

MEDIZINISCHE GENETIK | 2009年 / 21卷 / 03期

关键词：

Duchenne muscular dystrophy; Becker muscular dystrophy; Dystrophin gene; Genetic model; Germline mosaicism; DMD GENE; GERMLINE MOSAICISM; POINT MUTATIONS; MOLECULAR-BASIS; DELETIONS; DUPLICATIONS; FAMILIES; RISK; ORIGIN;

D O I：

10.1007/s11825-009-0186-3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Duchenne muscular dystrophy (DMD) is the most frequent muscular disorder in infancy. The inheritance is X-linked recessive with mutations in the dystrophin gene (about 65% deletions, about 7% duplications, about 26% point mutations, and about 2% unknown mutations). The genetic model is complex. The sex ratio of the mutations is unequal. Point mutations and duplications arise in spermatogenesis, whereas deletions arise in oogenesis. About 33% of all patients are new mutations; however, most new mutations are germline mosaic. Becker muscular dystrophy is allelic to DMD.

引用

页码：327 / 330

页数：4

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