Title: | Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome |
Journal : | Annals of neurology, 81, 4 |
Authors: | Salpietro V, Author ; Lin W ; Delle Vedove A ; Storbeck M ; Liu Y ; Efthymiou S ; Manole A ; Wiethoff S ; Ye Q ; Saggar A ; McElreavey K ; Krishnakumar S ; Pitt M ; Bello O ; Rothman JE ; Basel-Vanagaite L ; Hubshman MW ; Aharoni S ; Manzur AY ; Wirth B ; Houlden H |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 597 |
Languages: | English |
Keywords : | case studies ; congenital myasthenic syndrome ; electrodiagnosis ; genetic mutations ; mouse model ; sequencing ; VAMP1 gene |
Keywords: | Congenital myasthenic syndrome;SNARE complex;VAMP1; |
Pubmed / DOI : | DOI : 10.1002/ana.24905 / Pubmed : 28253535 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28253535 |