An autosomal-recessive form of centronuclear myopathy is caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene

被引：0

作者：

Wilmshurst, J. ^{[1
]}

Lillis, S. ^{[2
]}

Zhou, H. ^{[3
]}

Kress, W. ^{[4
]}

Solomon, R. ^{[5
]}

Ndondo, A.

Greenberg, J. ^{[6
]}

Sinclair-Smith, C. C. ^{[5
]}

Bertini, E. ^{[7
]}

Boennemann, C. ^{[8
]}

Straub, V. ^{[9
]}

Quinlivan, R. ^{[10
]}

Sewry, C. A. ^{[10
]}

Wraige, E. ^{[11
]}

Abbs, S. ^{[12
]}

Muntoni, F. ^{[3
]}

Jungbluth, H. ^{[11
]}

机构：

[1] Univ Cape Town, Sch Child & Adolescent Hlth, Red Cross Childrens Hosp, Dept Paediat Neurol, ZA-7925 Cape Town, South Africa

[2] Guys Hosp, DNA Diagnost Lab, London SE1 9RT, England

[3] UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England

[4] Univ Wurzburg, Inst Human Genet, Wurzburg, Germany

[5] Univ Cape Town, Red Cross Childrens Hosp, Dept Paediat Pathol, ZA-7925 Cape Town, South Africa

[6] Univ Cape Town, Dept Mol Genet, ZA-7925 Cape Town, South Africa

[7] Bambino Gesu Pediat Hosp, Mol Med Unit, Rome, Italy

[8] Childrens Hosp Philadelphia, Dept Pediat Neurol, Philadelphia, PA 19104 USA

[9] Newcastle Univ, Int Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[10] Robert Jones & Agnes Hunt Orthopaed Hosp, Ctr Inherited Neuromuscular Disorders, Oswestry SY10 7AG, Shrops, England

[11] St Thomas Hosp, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

[12] Guys Hosp, DNA Diagnost Lab, London SE1 9RT, England

来源：

NEUROMUSCULAR DISORDERS | 2009年 / 19卷 / 8-9期

关键词：

D O I：

10.1016/j.nmd.2009.06.046

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：557 / 557

页数：1

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