Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

被引:0
作者
Grace McMacken
Roger G. Whittaker
Teresinha Evangelista
Angela Abicht
Marina Dusl
Hanns Lochmüller
机构
[1] Newcastle University,John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine
[2] Newcastle University,Institute of Neuroscience
[3] Ludwig Maximilians University,Friedrich
来源
Journal of Neurology | 2018年 / 265卷
关键词
Congenital myasthenic syndrome; Neuromuscular disease; Neurophysiology; Neuromuscular junction;
D O I
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中图分类号
学科分类号
摘要
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页码:194 / 203
页数:9
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[1]  
Ohno K(2001)Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans Proc Natl Acad Sci USA 98 2017-2022
[2]  
Tsujino A(2015)Choline acetyltransferase mutations causing congenital myasthenic syndrome: molecular findings and genotype-phenotype correlations Hum Mutat 36 881-893
[3]  
Brengman JM(2012)Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients Hum Mutat 33 1474-1484
[4]  
Arredondo J(2016)Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome Brain 139 2143-2153
[5]  
Lara M(1993)Repetitive nerve stimulation of anconeus in the assessment of neuromuscular transmission disorders Electroencephalogr Clin Neurophysiol 89 170-176
[6]  
Gospe SM(2006)Concentric-needle single-fiber electromyography for the diagnosis of myasthenia gravis Muscle Nerve 34 163-168
[7]  
Abicht A(1987)National Institutes of Health Consensus Development Conference on Infantile Apnea and Home Monitoring Sept 29 to Oct 1, 1986 Pediatrics 79 292-299
[8]  
Dusl M(1977)Cardiac conduction disorders in six infants with “near-miss” sudden infant deaths Br Med J 2 600-601
[9]  
Gallenmüller C(1991)The pneumographic and medical investigation of infants suffering apparent life threatening episodes J Paediatr Child Health 27 349-353
[10]  
O’Connor E(2002)Apparent life threatening events in infants presenting to an emergency department Emerg Med J EMJ 19 11-16