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

共 50 条

[1] Autosomal dominant mutations in the human ryanodine receptor (RYR1) gene associated with centronuclear myopathy [J].

Jungbluth, H ;

Zhou, H ;

Bertini, E ;

Treves, S ;

Sewry, C ;

Muntoni, F .

NEUROMUSCULAR DISORDERS, 2005, 15 (9-10) :681-681

[2] Autosomal centronuclear myopathy due to mutations in the skeletal muscle ryanodine receptor gene [J].

Jungbluth, H ;

Zhou, H ;

Bertini, E ;

Straub, V ;

Bushby, K ;

Robb, S ;

Treves, S ;

Sewry, C ;

Muntoni, F .

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2006, 48 :30-31

[3] Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene [J].

Jungbluth, Heinz ;

Zhou, Haiyan ;

Sewry, Caroline A. ;

Robb, Stephanie ;

Treves, Susan ;

Bitoun, Marc ;

Guicheney, Pascale ;

Buj-Bello, Anna ;

Boennemann, Carsten ;

Muntoni, Francesco .

NEUROMUSCULAR DISORDERS, 2007, 17 (04) :338-345

[4] The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene [J].

Sewry, C. ;

Jungbluth, H. ;

Feng, L. ;

Muntoni, F. .

NEUROMUSCULAR DISORDERS, 2011, 21 :S26-S26

[5] The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene [J].

Sewry, C. ;

Jungbluth, H. ;

Feng, L. ;

Muntoni, F. .

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2011, 37 :30-30

[6] A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene [J].

Loseth, Sissel ;

Voermans, Nicol C. ;

Torbergsen, Torberg ;

Lillis, Sue ;

Jonsrud, Christoffer ;

Lindal, Sigurd ;

Kamsteeg, Erik-Jan ;

Lammens, Martin ;

Broman, Marcus ;

Dekomien, Gabriele ;

Maddison, Paul ;

Muntoni, Francesco ;

Sewry, Caroline ;

Radunovic, Aleksandar ;

de Visser, Marianne ;

Straub, Volker ;

van Engelen, Baziel ;

Jungbluth, Heinz .

JOURNAL OF NEUROLOGY, 2013, 260 (06) :1504-1510

[7] A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene [J].

Sissel Løseth ;

Nicol C. Voermans ;

Torberg Torbergsen ;

Sue Lillis ;

Christoffer Jonsrud ;

Sigurd Lindal ;

Erik-Jan Kamsteeg ;

Martin Lammens ;

Marcus Broman ;

Gabriele Dekomien ;

Paul Maddison ;

Francesco Muntoni ;

Caroline Sewry ;

Aleksandar Radunovic ;

Marianne de Visser ;

Volker Straub ;

Baziel van Engelen ;

Heinz Jungbluth .

Journal of Neurology, 2013, 260 :1504-1510

[8] An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor [J].

Monnier, N ;

Romero, NB ;

Lerale, J ;

Nivoche, Y ;

Qi, D ;

MacLennan, DH ;

Fardeau, M ;

Lunardi, J .

HUMAN MOLECULAR GENETICS, 2000, 9 (18) :2599-2608

[9] The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor 1 (RYR1) gene [J].

Feng, L. ;

Jungbluth, H. ;

Jimenez-Mallebrera, C. ;

Zhou, H. ;

Brown, S. C. ;

Quinlivan, R. ;

Muntoni, F. ;

Sewry, C. A. .

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2009, 35 :15-16

[10] Mutations in the skeletal muscle ryanodine receptor (RYR1) gene presenting with exertional myalgia and rhabdomyolysis [J].

Dlamini, N. ;

Voermans, N. C. ;

Lillis, S. ;

Abbs, S. ;

Kamsteeg, E. ;

Al-Sarraj, S. ;

Lammens, M. ;

Muntoni, F. ;

Quinlivan, R. ;

Wraige, E. ;

van Engelen, B. ;

Jungbluth, H. .

NEUROMUSCULAR DISORDERS, 2011, 21 (9-10) :748-748

← 1 2 3 4 5 →