Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy
Author:
Funder
AFM-Téléthon
Agence Nationale de la Recherche
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
http://link.springer.com/article/10.1007/s00415-017-8569-x/fulltext.html
Reference46 articles.
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2. Tintignac LA, Brenner H-R, Rüegg MA (2015) Mechanisms regulating neuromuscular junction development and function and causes of muscle wasting. Physiol Rev 95:809–852. doi: 10.1152/physrev.00033.2014
3. Beeson D (2016) Congenital myasthenic syndromes: recent advances. Curr Opin Neurol 29:565–571. doi: 10.1097/WCO.0000000000000370
4. Bauché S, O’Regan S, Azuma Y et al (2016) Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea. Am J Hum Genet 99:753–761. doi: 10.1016/j.ajhg.2016.06.033
5. O’Grady GL, Verschuuren C, Yuen M et al (2016) Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology 87:1442–1448
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