A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
Procaccio V, Salazar G, Ono S, Styers ML, Gearing M, Davila A, Jimenez R, Juncos J, Gutekunst CA, Meroni G, Fontanella B, Sontag E, Sontag JM, Faundez V, Wainer BH.
Procaccio V, et al. Among authors: fontanella b.
Am J Hum Genet. 2006 Jun;78(6):947-60. doi: 10.1086/504271. Epub 2006 Apr 21.
Am J Hum Genet. 2006.
PMID: 16685646
Free PMC article.