Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea

Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea

The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the cl...

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Prif Awduron: Bauché, S, O'Regan, S, Azuma, Y, Laffargue, F, McMacken, G, Sternberg, D, Brochier, G, Buon, C, Bouzidi, N, Topf, A, Lacène, E, Remerand, G, Beaufrere, A-M, Pebrel-Richard, C, Thevenon, J, El Chehadeh-Djebbar, S, Faivre, L, Duffourd, Y, Ricci, F, Mongini, T, Fiorillo, C, Astrea, G, Burloiu, CM, Butoianu, N, Sandu, C, Servais, L, Bonne, G, Nelson, I, Desguerre, I, Nougues, M-C, Bœuf, B, Romero, N, Laporte, J, Boland, A, Lechner, D, Deleuze, J-F, Fontaine, B, Strochlic, L, Lochmuller, H, Eymard, B, Mayer, M, Nicole, S
Fformat: Journal article
Iaith:English
Cyhoeddwyd: Cell Press 2016

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