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;
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