A novel glycosyltransferase is mutated in a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan.

被引：0

作者：

Brockington, M

Blake, DJ

Prandini, P

Brown, SC

Torelli, S

Benson, MA

Ponting, CP

Estournet, B

Romero, N

Voit, T

Sewry, CA

Guicheney, P

Muntoni, F

机构：

[1] Hammersmith Hosp, ICSM, Dubowitz Neuromusc Ctr, London, England

[2] Univ Oxford, Dept Human Anat & Genet, Oxford, England

[3] Univ Cagliari, Dept Cytomorphol, Cagliari, Italy

[4] Hpital Raymond Poincar, Garches, France

[5] Pitie Salpetriere, INSERM, U523, Paris, France

[6] Univ Essen Gesamthsch, Dept Paediat, Essen, Germany

[7] Robert Jones & Agnes Hunt Orthopaed Hosp, Dept Histopathol, Oswestry SY10 7AG, Shrops, England

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 04期

关键词：

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

268

引用

下载

页码：229 / 229

页数：1

共 34 条

[11] Novel O-Mannosyl Phosphorylation of Alpha-Dystroglycan is Required for Laminin Binding: Implications for Congenital Muscular Dystrophy
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[15] Congenital muscular dystrophy with partial laminin α2 chain (merosin) deficiency:: Immunocytochemical and molecular studies
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[16] Clinical and molecular study in congenital muscular dystrophy with partial laminin α2 (LAMA2) deficiency
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[17] Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: A novel entity?
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[18] Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42
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AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (02) : 428 - 435
[19] Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin α2 deficiency in skin biopsy
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Acta Neuropathologica, 1997, 94 : 103 - 108
[20] Unusual laminin α2 processing in myoblasts from a patient with a novel variant of congenital muscular dystrophy
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