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

[21] Profound changes in the gene expression of skeletal muscle lacking the type 1 ryanodine receptor (RYR1)
Filipova, D.
Walter, A. M.
Gasper, J. A.
Brunn, A.
Deckert, M.
Sachinidis, A.
Pfitzer, G.
Papadopoulos, S.
ACTA PHYSIOLOGICA, 2016, 216
[22] Late-onset axial myopathy with cores due to a novel dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
Jungbluth, H.
Lillis, S.
Zhou, H.
Abbs, S.
Swash, M.
Muntoni, F.
NEUROMUSCULAR DISORDERS, 2008, 18 (9-10) : 809 - 809
[23] Genomic profiling of ryanodine receptor type 1 (RYR1)-deficient skeletal muscle
Filipova, D.
Walter, A.
Gaspar, J. A.
Pfitzer, G.
Sachinidis, A.
Papadopoulos, S.
ACTA PHYSIOLOGICA, 2015, 213 : 152 - 152
[24] Phenotypic spectrum of core-rod myopathy caused by dominant or recessive RYR1 mutations
Claeys, K. G.
Monnier, N.
Laforet, P.
Brochier, G.
Ferreiro, A.
Barois, A.
Eymard, B.
Lunardi, J.
Fardeau, M.
Romero, N. B.
NEUROMUSCULAR DISORDERS, 2009, 19 (8-9) : 556 - 556
[25] Ryanodine receptor gene (RYR1) mutations for diagnosing susceptibility to malignant hyperthermia
Urwyler, A
Halsall, PJ
Mueller, C
Robinson, R
ACTA ANAESTHESIOLOGICA SCANDINAVICA, 2003, 47 (04) : 492 - 492
[26] Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
Jungbluth, Heinz
Lillis, Suzanne
Zhou, Haiyan
Abbs, Stephen
Sewry, Caroline
Swash, Michael
Muntoni, Francesco
NEUROMUSCULAR DISORDERS, 2009, 19 (05) : 344 - 347
[27] Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene
Zhou, Haiyan
Lillis, Suzanne
Loy, Ryan E.
Ghassemi, Farshid
Rose, Michael R.
Norwood, Fiona
Mills, Kerry
Al-Sarraj, Safa
Lane, Russell J. M.
Feng, Lucy
Matthews, Emma
Sewry, Caroline A.
Abbs, Stephen
Buk, Stefan
Hanna, Michael
Treves, Susan
Dirksen, Robert T.
Meissner, Gerhard
Muntoni, Francesco
Jungbluth, Heinz
NEUROMUSCULAR DISORDERS, 2010, 20 (03) : 166 - 173
[28] Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene
Klein, A.
Lillis, S.
Oprea, I.
Scoto, M.
Robb, S.
Manzur, A.
Straub, V.
Roper, H.
Jeannet, P. Y.
Kingston, H.
Jensen, U. B.
Wraige, E.
Trump, N.
Rakowicz, W.
Roberts, M.
Longman, C.
Lochmuller, H.
Bushby, K.
Hughes, M. I.
Abbs, S.
Jungbluth, H.
Muntoni, F.
NEUROMUSCULAR DISORDERS, 2011, 21 (9-10) : 694 - 694
[29] High frequency of polymorphisms in the RYR1 gene in Brazilian patients with centronuclear myopathy
Yamamoto, L. U.
Maia, L. S.
Ayub-Guerrieri, D.
Onofre, P. C. G.
Lopes, V. F.
Zilberztajn, D.
Martins, P. C. M.
Senkevics, A. S.
Santos, A. L. F.
Sell, K.
Zatz, M.
Silva, H. C.
Gurgel-Gianneti, J.
Vainzof, M.
NEUROMUSCULAR DISORDERS, 2008, 18 (9-10) : 810 - 810
[30] THE STRUCTURE OF THE HUMAN SKELETAL-MUSCLE RYANODINE RECEPTOR GENE (RYR1) END ITS UTILITY IN SCREENING FOR MALIGNANT HYPERTHERMIA MUTATIONS
PHILLIPS, MS
MACLENNAN, DH
AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1294 - 1294

← 1 2 3 4 5 →