Reference : Syndrome du canal lent associe a une translocation autosomique 2q31-9p27.
Scientific journals : Article
Human health sciences : Neurology
http://hdl.handle.net/2268/116769
Syndrome du canal lent associe a une translocation autosomique 2q31-9p27.
French
[en] Slow channel syndrome due to an autosomal translocation at 2q31-9p27
Zeevaert, Bernard [Centre Hospitalier Universitaire de Liège - CHU > > Médecine de l'appareil locomoteur >]
Hansen, Isabelle [Centre Hospitalier Universitaire de Liège - CHU > > Neurologie Sart Tilman >]
Crielaard, Jean-Michel mailto [Centre Hospitalier Universitaire de Liège - CHU > > Médecine de l'appareil locomoteur >]
Wang, François-Charles mailto [Centre Hospitalier Universitaire de Liège - CHU > > Médecine de l'appareil locomoteur >]
2002
Revue Neurologique
Masson
158
5 Pt 1
605-8
Yes (verified by ORBi)
0035-3787
Paris
France
[en] Action Potentials ; Adult ; Autoimmune Diseases/diagnosis ; Chromosomes, Human, Pair 2/genetics/ultrastructure ; Chromosomes, Human, Pair 9/genetics/ultrastructure ; Diagnosis, Differential ; Electromyography ; Genetic Heterogeneity ; Humans ; In Situ Hybridization, Fluorescence ; Ion Transport ; Male ; Muscarinic Antagonists/therapeutic use ; Myasthenia Gravis/diagnosis ; Myasthenic Syndromes, Congenital/diagnosis/drug therapy/genetics ; Neostigmine/diagnostic use ; Neural Conduction ; Protein Subunits ; Quinidine/therapeutic use ; Receptors, Muscarinic/genetics/physiology ; Translocation, Genetic
[en] A 27-year-old man complained of cervicoscapular and forearm weakness and amyotrophy. Electromyographic evaluation showed neuromuscular transmission dysfunction and a repetitive compound muscle action potential to a single stimulus. Prostigmine did not improve neuromuscular transmission. The genetic analysis of the patient's lymphocytes demonstrated a chromosomic 2q31-9p27 translocation. The combination of the clinical and electrophysiological data as well as the lack of auto-immunity signs against neuromuscular junction constituents led to the diagnosis to congenital postsynaptic myasthenic syndrome also called slow channel syndrome. This congenital myasthenic syndrome is for the first time associated with an autosomal translocation 2q31-9p27.
http://hdl.handle.net/2268/116769

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