Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia

被引:10
作者
Gentili, Andrea [1 ]
Ansaloni, Stefania [1 ]
Morello, William [2 ]
Cecini, Maria T. [1 ]
Cordelli, Duccio M. [3 ]
Baroncini, Simonetta [1 ]
机构
[1] Univ Bologna, S Orsola Malpighi Hosp, Dept Paediat Anaesthesia & Intens Care, I-40138 Bologna, Italy
[2] Univ Bologna, S Orsola Malpighi Hosp, Dept Paediat, I-40138 Bologna, Italy
[3] Univ Bologna, S Orsola Malpighi Hosp, Child Neurol & Psychiat Unit, I-40138 Bologna, Italy
关键词
D O I
10.1097/EJA.0b013e3283453f4b
中图分类号
R614 [麻醉学];
学科分类号
100217 ;
摘要
引用
收藏
页码:748 / 749
页数:2
相关论文
共 7 条
[1]  
Çaliskan E, 2008, AGRI, V20, P49
[2]   Congenital myasthenic syndromes: Multiple molecular targets at the neuromuscular junction [J].
Engel, AG ;
Ohno, K ;
Shen, XM ;
Sine, SM .
MYASTHENIA GRAVIS AND RELATED DISORDERS: BIOCHEMICAL BASIS FOR DISEASE OF THE NEUROMUSCULAR JUNCTION, 2003, 998 :138-160
[3]   Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges [J].
Kinali, M. ;
Beeson, D. ;
Pitt, M. C. ;
Jungbluth, H. ;
Simonds, A. K. ;
Aloysius, A. ;
Cockerill, H. ;
Davis, T. ;
Palace, J. ;
Manzur, Ax ;
Jimenez-Mallebrera, C. ;
Sewry, C. ;
Muntoni, F. ;
Robb, S. A. .
JOURNAL OF NEUROIMMUNOLOGY, 2008, 201 :6-12
[4]   Safety of succinylcholine in myasthenia gravis [J].
Levitan, R .
ANNALS OF EMERGENCY MEDICINE, 2005, 45 (02) :225-226
[5]   Isoflurane for sedation in a case of congenital myasthenia gravis [J].
McBeth, C ;
Watkins, TGL .
BRITISH JOURNAL OF ANAESTHESIA, 1996, 77 (05) :672-674
[6]   Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients [J].
Müller, JS ;
Mildner, G ;
Müller-Felber, W ;
Schara, U ;
Krampfl, K ;
Petersen, B ;
Petrova, S ;
Stucka, R ;
Mortier, W ;
Bufler, J ;
Kurlemann, G ;
Huebner, A ;
Merlini, L ;
Lochmüller, H ;
Abicht, A .
NEUROLOGY, 2003, 60 (11) :1805-1810
[7]  
Robb Stephanie A, 2010, Neuromuscul Disord, V20, P833, DOI 10.1016/j.nmd.2010.08.002