作者：
Laura,Carrera-García [1]
;
Daniel,Natera-de Benito [2]
;
Klaus,Dieterich [1]
;
Marta G G,de la Banda [2]
;
Adrien,Felter [3]
;
Emili,Inarejos [4]
;
Anna,Codina [5]
;
Cristina,Jou [6]
;
Monica,Roldan [1]
;
Francesc,Palau [2]
;
Janet,Hoenicka [1]
;
Jordi,Pijuan [2]
;
Carlos,Ortez [7]
;
Jessica,Expósito-Escudero [8]
;
Chantal,Durand [9]
;
Frédérique,Nugues [10]
;
Cecilia,Jimenez-Mallebrera [11]
;
Jaume,Colomer [12]
;
Robert Y,Carlier [10]
;
Hanns,Lochmüller [13]
;
Susana,Quijano-Roy [10]
;
Andres,Nascimento [1]
作者单位：
Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Deu, Barcelona, Spain.
[1]
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain.
[2]
Département de Génétique et Procréation, CHU de Grenoble Alpes, Grenoble Cedex 9, France.
[3]
Neuromuscular Unit, Department of Pediatric Neurology, Intensive Care and Rehabilitation, Raymond Poincaré University Hospital (AP-HP; UVSQ Paris Saclay), Garches, France.
[4]
Department of Medical Radiology, Raymond Poincaré University Hospital (AP-HP; UVSQ Paris Saclay), Garches, France.
[5]
Department of Radiology, Hospital Universitari Sant Joan de Deu, Barcelona, Spain.
[6]
Department of Pathology, Hospital Sant Joan de Deu, Barcelona, Spain.
[7]
Confocal Microscopy Unit, Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain.
[8]
Department of Genetic and Molecular Medicine, Hospital Sant Joan de Déu, Barcelona, Spain.
[9]
Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
[10]
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
[11]
Division of Pediatrics, University of Barcelona School of Medicine, Barcelona, Spain.
[12]
Centro de Investigación Biomédica en Salud Mental (CIBERSAM), Barcelona, Spain.
[13]
Department of Radiology, CHU de Grenoble Alpes, Grenoble, France.
[14]
Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
[15]
Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
[16]
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, Canada.
[17]
主题词
畸形, 多发性(Abnormalities, Multiple);青少年(Adolescent);等位基因(Alleles);氨基酸取代(Amino Acid Substitution);活组织检查(Biopsy);儿童, 学龄前(Child, Preschool);超声心动描记术(Echocardiography);女(雌)性(Female);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);基因检测(Genetic Testing);基因型(Genotype);人类(Humans);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);恶性高热(Malignant Hyperthermia);模型, 分子(Models, Molecular);肌, 骨骼(Muscle, Skeletal);突变(Mutation);表型(Phenotype);蛋白质构象(Protein Conformation);受体, 烟碱(Receptors, Nicotinic);皮肤畸形(Skin Abnormalities);构效关系(Structure-Activity Relationship);全身成像(Whole Body Imaging)
DOI
10.1002/ajmg.a.61122
PMID
30868735
发布时间
2020-09-30
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