Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Salpietro V, Lin W, Delle Vedove A, Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar SS; SYNAPS Study Group; Pitt M, Bello OD, Rothman JE, Basel-Vanagaite L, Hubshman MW, Aharoni S, Manzur AY, Wirth B, Houlden H.
Salpietro V, et al. Among authors: krishnakumar ss.
Ann Neurol. 2017 Apr;81(4):597-603. doi: 10.1002/ana.24905. Epub 2017 Mar 29.
Ann Neurol. 2017.
PMID: 28253535
Free PMC article.