A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.
Weterman MA, Sorrentino V, Kasher PR, Jakobs ME, van Engelen BG, Fluiter K, de Wissel MB, Sizarov A, Nürnberg G, Nürnberg P, Zelcer N, Schelhaas HJ, Baas F.
Weterman MA, et al. Among authors: fluiter k.
Hum Mol Genet. 2012 Jan 15;21(2):358-70. doi: 10.1093/hmg/ddr471. Epub 2011 Oct 19.
Hum Mol Genet. 2012.
PMID: 22012984
Free PMC article.