Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter

•This report provides three novel pathogenic variants in SLC5A7 causing CMS type 20.•CMS type 20 is remarkably variable in clinical phenotype, severity and prognosis.•Additional treatment with β2-adrenergic agonists may be useful in some patients. SLC5A7 encodes the presynaptic sodium-dependant high...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2021-01, Vol.31 (1), p.21-28
Hauptverfasser:	Rodríguez Cruz, Pedro M., Hughes, Imelda, Manzur, Adnan, Munot, Pinki, Ramdas, Sithara, Wright, Ronnie, Breen, Catherine, Pitt, Mathew, Pagnamenta, Alistair T., Taylor, Jenny C., Palace, Jacqueline, Beeson, David
Format:	Artikel
Sprache:	eng
Schlagworte:	Congenital myasthenic syndromes High-affinity choline transporter Neuromuscular junction SLC5A7 ß2-adrenergic agonists
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