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