Genotype-phenotype correlations in recessive RYR1-related myopathies

被引：0
作者：
Kimberly Amburgey
Angela Bailey
Jean H Hwang
Mark A Tarnopolsky
Carsten G Bonnemann
Livija Medne
Katherine D Mathews
James Collins
Jasper R Daube
Gregory P Wellman
Brian Callaghan
Nigel F Clarke
James J Dowling
机构：
[1] University of Michigan Medical Center,Department of Pediatrics, Taubman Medical Research Institute
[2] University of Sydney,Institute for Neuroscience and Muscle Research, Children’s Hospital at Westmead
[3] McMaster University Medical Center,Department of Neuromuscular and Neurometabolic Disease
[4] National Institutes of Health,Neuromuscular and Neurogenetic Disorders of Childhood Section
[5] Children’s Hospital of Philadelphia,Division of Neurology
[6] Carver College of Medicine,Departments of Pediatrics and Neurology, University of Iowa
[7] Cincinnati Children’s Hospital Medical Center,Department of Pediatric Neurology
[8] Mayo Foundation for Medical Education and Research,Department of Neurology
[9] The Delta Pathology Group,Department of Neurology
[10] University of Michigan Medical Center,Discipline of Paediatrics and Child Health
[11] University of Sydney,undefined
来源：
Orphanet Journal of Rare Diseases | / 8卷
关键词：
Genotype-phenotype relationships; RYR1; Congenital myopathies;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 346 条
[1]  
Zhou H(2007)Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies Brain 130 2024-2036
[2]  
Jungbluth H(2006)Mutations in RYR1 in malignant hyperthermia and central core disease Hum Mutat 27 977-989
[3]  
Sewry CA(2011)Prevalence of congenital myopathies in a representative pediatric united states population Ann Neurol 70 662-665
[4]  
Feng L(2007)Multi-minicore Disease Orphanet J Rare Dis 2 31-726
[5]  
Bertini E(2010)RYR1 mutations are a common cause of congenital myopathies with central nuclei Ann Neurol 68 717-E1550
[6]  
Bushby K(2010)Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion Hum Mutat 31 E1544-1127
[7]  
Straub V(2012)Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy Brain 135 1115-157
[8]  
Roper H(2003)Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene Neuromuscul Disord 13 151-326
[9]  
Rose MR(2008)Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm Curr Opin Pharmacol 8 319-678
[10]  
Brockington M(2008)Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores Hum Mutat 29 670-S17
12345678910