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. 2019 Mar 19;10:257. doi: 10.3389/fneur.2019.00257

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Copyright © 2019 Nicolau and Milone.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Schematic representation of the neuromuscular junction emphasizing proteins involved in presynaptic congenital myasthenic syndromes. Names in bold designate proteins implicated in presynaptic congenital myasthenic syndromes. AChR, acetylcholine receptor; ChAT, choline acetyltransferase; ChT, high-affinity presynaptic choline transporter; MuSK, muscle-specific kinase; SNAP25, synaptosomal-associated protein 25; VAChT, vesicular acetylcholine transporter. Rabphilin 3A is not illustrated, as its precise role in neuromuscular transmission remains to be established.