| Title : Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter - Rodriguez_2021_Neuromuscul.Disord_31_21 |
| Author(s) : Rodriguez Cruz PM , Hughes I , Manzur A , Munot P , Ramdas S , Wright R , Breen C , Pitt M , Pagnamenta AT , Taylor JC , Palace J , Beeson D |
| Ref : Neuromuscular Disorders , 31 :21 , 2021 |
| Abstract : |
| PubMedSearch : Rodriguez_2021_Neuromuscul.Disord_31_21 |
| PubMedID: 33250374 |