Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

doi:10.1016/j.ajhg.2016.06.033

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Article

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

American journal of human genetics - 1 Sept 2016

Bauché Stéphanie, O'Regan Seana, Azuma Yoshiteru, Laffargue Fanny, McMacken Grace, Sternberg Damien, Brochier Guy, Buon Céline, Bouzidi Nassima, Topf Ana, Lacène Emmanuelle, Remerand Ganaelle, Beaufrere Anne-Marie, Pebrel-Richard Céline, Thevenon Julien, El Chehadeh-Djebbar Salima, Faivre Laurence, Duffourd Yannis, Ricci Federica, Mongini Tiziana, Fiorillo Chiara, Astrea Guja, Burloiu Carmen Magdalena, Butoianu Niculina, Sandu Carmen, Servais Laurent, Bonne Gisèle, Nelson Isabelle, Desguerre Isabelle, Nougues Marie-Christine, Bœuf Benoit, Romero Norma, Laporte Jocelyn, Boland Anne, Lechner Doris, Deleuze Jean-François, Fontaine Bertrand, Strochlic Laure, Lochmuller Hanns, Eymard Bruno, Mayer Michèle, Nicole Sophie

Abstract excerpt

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 clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound...

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Identifiers

PMID: 27569547
DOI: 10.1016/j.ajhg.2016.06.033
PMCID: PMC5011057

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