Citations for
1CMT2P, LRSAM1
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.
Nicolaou P, Cianchetti C, Minaidou A, Marrosu G, Zamba-Papanicolaou E, Middleton L, Christodoulou K.
Eur J Hum Genet 21(2):190-4. doi: 10.1038/ejhg.2012.146. Epub 2012 Jul 11. 2013
2CMT2P, LRSAM1
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.
Hum Mol Genet 21(2):358-70. doi: 10.1093/hmg/ddr471. Epub 2011 Oct 19. 2012
3CMT2P, HMSNP
Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1.
Takashima H, Nakagawa M, Suehara M, Saito M, Saito A, Kanzato N, Matsuzaki T, Hirata K, Terwilliger JD, Osame M.
Neuromuscul Disord 9(6-7):368-71. 1999
4CMT2P, HMSNP
A new type of hereditary motor and sensory neuropathy linked to chromosome 3.
Takashima H, Nakagawa M, Nakahara K, Suehara M, Matsuzaki T, Higuchi I, Higa H, Arimura K, Iwamasa T, Izumo S, Osame M.
Ann Neurol 41(6):771-80. 1997