Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking in vitro and in vivo

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The high-affinity choline transporter (CHT, SLC5A7) is a critical determinant of signalling by the neurotransmitter acetylcholine at both central and peripheral cholinergic synapses, including the neuromuscular junction. Here we describe an autosomal recessive form of a pre-synaptic congenital myasthenic syndrome (CMS) presenting with severe hypotonia, severe cognitive involvement, muscle fatigability requiring gastrostomy and ventilation by tracheostomy and associated with targetoid-like muscle lesions due to homozygous CHT N-terminal missense mutations (S94R, V112E, P210L).

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