Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter
| Autor: | Rodríguez Cruz, Pedro M. a, b, ⁎, Hughes, Imelda c, Manzur, Adnan d, Munot, Pinki d, Ramdas, Sithara e, Wright, Ronnie f, Breen, Catherine f, Pitt, Mathew g, Pagnamenta, Alistair T. h, Taylor, Jenny C. h, Palace, Jacqueline a, Beeson, David a, b |
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| Zdroj: | In Neuromuscular Disorders January 2021 31(1):21-28 |
| Databáze: | ScienceDirect |
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