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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[41] Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene [J].

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Zhou, H ;

Hartley, L ;

Halliger-Keller, B ;

Messina, S ;

Longman, C ;

Brockington, M ;

Robb, SA ;

Straub, V ;

Voit, T ;

Swash, M ;

Ferreiro, A ;

Bydder, G ;

Sewry, CA ;

Müller, C ;

Muntoni, F .

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[42] Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire study [J].

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Bersselaar, Luuk R. van den ;

Knock, Greg A. ;

Goldberg, Michael F. ;

Vanegas, Maria, I ;

Fernandez-Garcia, Miguel A. ;

Treves, Susan ;

Voermans, Nicol C. ;

Tribe, Rachel M. ;

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[43] Functional characterization of mutations in the ryanodine receptor calcium release channel (RYR1) [J].

Girard, T ;

Zorzato, F ;

Cavagna, D ;

Mueller, C ;

Treves, S .

BIOPHYSICAL JOURNAL, 2002, 82 (01) :176A-176A

[44] An unusual ryanodine receptor 1 (RYR1) phenotype Mild calf-predominant myopathy [J].

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Tasca, Giorgio ;

Vihola, Anna ;

Mercuri, Eugenio ;

Jonson, Per-Harald ;

Lehtinen, Sara ;

Valipakka, Salla ;

Pane, Marika ;

Donati, Maria ;

Johari, Mridul ;

Savarese, Marco ;

Huovinen, Sanna ;

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Palmio, Johanna ;

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Udd, Bjarne .

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[45] Phenotypic Diversity of Mutations in the Ryanodine Receptor (RYR1): A Series of Six Cases [J].

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Parkin, Nicholas ;

Abbs, Stephen ;

Marino, Silvia ;

Vaidya, Sujit ;

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Radunovic, Aleksandar .

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[46] Mutations of the GnRH receptor gene: A new cause of autosomal-recessive hypogonadotropic hypogonadism [J].

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Counis, R ;

Bouchard, P .

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[47] Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations [J].

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Fujiwara, Ikuma ;

Kikuchi, Atsuo ;

Wakusawa, Keisuke ;

Kobayashi, Satoru ;

Kikuchi, Hirosato ;

Ichihara, Yasuko ;

Takahashi, Shinichiro ;

Nishino, Ichizo .

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[48] Sarcolemmal membrane alterations in autosomal recessive centronuclear myopathy due to BIN1 mutations [J].

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WORTON, RG ;

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GREGG, RG .

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[50] Autosomal recessive myofibrillar myopathy caused by ACTA1 mutations [J].

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