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

被引：97

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

共 12 条

[1] Animal models for muscular dystrophy: valuable tools for the development of therapies
Allamand, V
Campbell, KP
[J]. HUMAN MOLECULAR GENETICS, 2000, 9 (16) : 2459 - 2467
[2] Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan
Brockington, M
Blake, DJ
Prandini, P
Brown, SC
Torelli, S
Benson, MA
Ponting, CP
Estournet, B
Romero, NB
Mercuri, E
Voit, T
Sewry, CA
Guicheney, P
Muntoni, F
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) : 1198 - 1209
[3] PCR based mutation screening of the laminin α2 chain gene (LAMA2):: application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy
Guicheney, P
Vignier, N
Zhang, X
He, Y
Cruaud, C
Frey, V
Helbling-Leclerc, A
Richard, P
Estournet, B
Merlini, L
Topaloglu, H
Mora, M
Harpey, JP
Haenggeli, CA
Barois, A
Hainque, B
Schwartz, K
Tome, FMS
Fardeau, M
Tryggvason, K
[J]. JOURNAL OF MEDICAL GENETICS, 1998, 35 (03) : 211 - 217
[4] Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy
Hayashi, YK
Tezak, Z
Momoi, T
Nonaka, I
Garcia, CA
Hoffman, EP
Arahata, K
[J]. NEUROMUSCULAR DISORDERS, 2001, 11 (04) : 350 - 359
[5] Congenital muscular dystrophy with primary partial laminin α2 chain deficiency:: Molecular study
He, Y
Jones, KJ
Vignier, N
Morgan, G
Chevallay, M
Barois, A
Estournet-Mathiaud, B
Hori, H
Mizuta, T
Tomé, FMS
North, KN
Guicheney, P
[J]. NEUROLOGY, 2001, 57 (07) : 1319 - 1322
[6] HEIBLINGLECLERC A, 2000, METHODS MOL MED, P199
[7] Miyagoe-Suzuki Y, 2000, MICROSC RES TECHNIQ, V48, P181, DOI 10.1002/(SICI)1097-0029(20000201/15)48:3/4<181::AID-JEMT6>3.0.CO
[8] 2-Q
[9] Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy
Mostacciuolo, ML
Miorin, M
Martinello, F
Angelini, C
Perini, P
Trevisan, CP
[J]. HUMAN GENETICS, 1996, 97 (03) : 277 - 279
[10] MUNTONI F, 2001, 85 ENMC INT WORKSH C, V12, P69

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