Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for α2 chain of laminin)

被引：99

作者：

Allamand, V ^{[1
]}

Guicheney, P ^{[1
]}

机构：

[1] Grp Hosp Pitie Salpetriere, INSERM U523, Inst Myol, F-75651 Paris 13, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2002年 / 10卷 / 02期

关键词：

congenital muscular dystrophy; laminin; merosin-deficiency; extracellular matrix; skeletal muscle;

D O I：

10.1038/sj.ejhg.5200743

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Congenital muscular dystrophies (CMDs) are a highly heterogeneous group of neuromuscular disorders. A subgroup displays a specific deficiency in a protein of the extracellular matrix, the alpha2 chain of laminin-2 (merosin). A number of mutations in the gene encoding this protein have been identified in patients who present with a severe phenotype and white matter changes.

引用

页码：91 / 94

页数：4

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