SLC5A7 and motor neuron disorder: Previously, we identified a frameshift (c.1497delG) mutation in SLC5A7 (NM_021815.2), encoding the hemicholinium-3 (HC-3)-sensitive Na+/Cl-dependent, presynaptic choline transporter (CHT; NP_068587.1) critical for normal neuromuscular junction (NMJ) signaling, as the cause of a dominantly-inherited motor neuron disease (dHMN-VII).1 This variant resulted in a translational frameshift of CHT, causing premature termination (p.Lys499Asnfs*13) and protein truncation, with near-complete deletion of the cytoplasmic C-terminus.