| 1 | 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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| 2 | CMT4D, NDRG1
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| NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement.
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| Echaniz-Laguna A, Degos B, Bonnet C, Latour P, Hamadouche T, Lévy N, Leheup B.
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| Neuromuscul Disord 17(2):163-8. Epub 2006 Dec 4.
2007
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| 3 | NDRG1, CMT4D
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| Expression analysis of the N-Myc downstream-regulated gene 1 indicates that myelinating Schwann cells are the primary disease target in hereditary motor and sensory neuropathy-Lom.
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| Berger P, Sirkowski EE, Scherer SS, Suter U.
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| Neurobiol Dis 17(2):290-9. 2004
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| 4 | CMT4D, NDRG1
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| Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.
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| Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochmuller H, Voit T, Colomer J, Thomas PK, Levy N, Kalaydjieva L.
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| Hum Mutat 22(2):129-35. 2003
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| 5 | HMSNR, CMT4D
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| Neuromuscular disorders in the Gypsy ethnic group. A short review.
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| Navarro C, Teijeira S.
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| Acta Myol 22(1):11-4. Review. 2003
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| 6 | CMT4D, NDRG1, NDRG2, NDRG3
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| N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.
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| Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK.
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| Am J Hum Genet 67(1):47-58. 2000
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| 7 | CMT4D
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| Hereditary motor and sensory neuropathy - lom (HMSNL): refined genetic mapping in romani (Gypsy) families from several european countries.
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| Chandler D, Angelicheva D, Heather L, Gooding R, Gresham D, Yanakiev P, de Jonge R, Baas F, Dye D, Karagyozov L, Savov A, Blechschmidt K, Keats B, Thomas PK, King RH, Starr A, Nikolova A, Colomer J, Ishpekova B, Tournev I, Andoni Urtizberea J, Merlini L, Butinar D, Chabrol B, Voit T, Baethmann M.
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| Neuromuscul Disord 10(8):584-91. 2000
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| 8 | CMT4D
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| Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings.
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| Kalaydjieva L, Nikolova A, Turnev I, Petrova J, Hristova A, Ishpekova B, Petkova I, Shmarov A, Stancheva S, Middleton L, Merlini L, Trogu A, Muddle JR, King RH, Thomas PK.
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| Brain 121 ( Pt 3):399-408. 1998
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| 9 | CMT4D
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| Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24.
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| Kalaydjieva L, et al.
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| Nat Genet 14 : 214-217. 1996
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