| 1 | CMT4C, SH3TC2
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| High frequency of SH3TC2 mutations in Czech HMSN I patients.
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| Laššuthová P, Mazanec R, Vondráček P, Sišková D, Haberlová J, Sabová J, Seeman P.
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| Clin Genet lin Genet. 2011 Feb 3. doi: 10.1111/j.1399-0004.2011.01640.x. [Epub ahead of print]
2011
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| 2 | CMT4C, RAB11A, RAB11B, SH3TC2, SH3TC23
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| Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.
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| Roberts RC, Peden AA, Buss F, Bright NA, Latouche M, Reilly MM, Kendrick-Jones J, Luzio JP.
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| Hum Mol Genet um Mol Genet. 2010 Jan 12. [Epub ahead of print]PMID: 20028792 2010
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| 3 | CMT4C, SH3TC2
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| SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
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| Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Médard JJ, Tricaud N, Weis J, Suter U, Senderek J, Chrast R.
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| Proc Natl Acad Sci U S A 106(41):17528-33. Epub 2009 Sep 29.PMID: 19805030 2009
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| 4 | CMT4C, SH3TC2
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| Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.
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| Lupo V, Galindo MI, Martínez-Rubio D, Sevilla T, Vílchez JJ, Palau F, Espinós C.
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| Hum Mol Genet 18(23):4603-14. Epub 2009 Sep 10.PMID: 19744956 2009
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| 5 | CMT4C, SH3TC2
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| Gene symbol: SH3TC2. Disease: Charcot-Marie-Tooth type 4C.
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| Martínez-Rubio D, Millán JM, Palau F, Espinós C.
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| Hum Genet 124(3):320. No abstract available. Erratum in: Hum Genet. 2009 Apr;125(3):353. Espinós, Carmen [removed]. PMID: 18846676 2008
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| 6 | CMT4C, SH3TC2
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| Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
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| Gosselin I, Thiffault I, Tétreault M, Chau V, Dicaire MJ, Loisel L, Emond M, Senderek J, Mathieu J, Dupré N, Vanasse M, Puymirat J, Brais B.
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| Neuromuscul Disord 18(6):483-92. Epub 2008 Jun 3.PMID: 18511281 2008
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| 7 | SH3TC2, CMT4C, NDRG1, CMT4D
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| The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
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| Claramunt R, Sevilla T, Lupo V, Cuesta A, Millan J, Vilchez J, Palau F, Espinos C.
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| Clin Genet 71(4):343-9. 2007
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| 8 | CMT4C, SH3TC2
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| Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
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| Azzedine H, RavisŽ N, Verny C, Gabr‘els-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E.
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| Neurology 67(4):602-6. 2006
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| 9 | CMT4C, SH3TC2
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| Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.
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| Colomer J, Gooding R, Angelicheva D, King RH, Guillén-Navarro E, Parman Y, Nascimento A, Conill J, Kalaydjieva L.
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| Neuromuscul Disord 16(7):449-53. Epub 2006 Jun 27.
2006
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| 10 | MTMR2, CMT4B1, SBF2, CMT4B2, SH3TC2, CMT4C, PRX, CMT4F, LMNA, CMT2B1
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| Autosomal-recessive Charcot-Marie-Tooth diseases.
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| Vallat JM, Tazir M, Magdelaine C, Sturtz F, Grid D.
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| J Neuropathol Exp Neurol 64(5):363-70. Review. 2005
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| 11 | SH3TC2, CMT4C
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| Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
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| Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Muller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schoneborn S, Zuchner S, Michael Schroder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Buttner R, Nelis E, Zerres K.
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| Am J Hum Genet 73(5):1106-19. Epub 2003 Oct 21. 2003
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| 12 | SH3TC2, CMT4C
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| Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.
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| LeGuern E, et al.
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| Hum Mol Genet 5 : 1685-1688. 1996
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