| 1 | CMT4B1, CMT4F, MTMR2, PRX
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| Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
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| Nouioua S, Hamadouche T, Funalot B, Bernard R, Bellatache N, Bouderba R, Grid D, Assami S, Benhassine T, Levy N, Vallat JM, Tazir M.
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| Neuromuscul Disord 21(8):543-50. doi: 10.1016/j.nmd.2011.04.013. Epub 2011 Jul 7.
2011
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| 2 | CMT4B1, CMT4J, FIG4, MTMR2
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| Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.
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| Vaccari I, Dina G, Tronchère H, Kaufman E, Chicanne G, Cerri F, Wrabetz L, Payrastre B, Quattrini A, Weisman LS, Meisler MH, Bolino A.
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| PLoS Genet 7(10):e1002319. doi: 10.1371/journal.pgen.1002319. Epub 2011 Oct 20.
2011
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| 3 | CMT4B1, CMT4B2, MTMR2, SBF2
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| Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.
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| Previtali SC, Quattrini A, Bolino A.
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| Expert Rev Mol Med 9(25):1-16. Review.
2007
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| 4 | CMT4B1, MTMR2
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| Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.
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| Chojnowski A, Ravisé N, Bachelin C, Depienne C, Ruberg M, Brugg B, Laporte J, Baron-Van Evercooren A, LeGuern E.
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| Neurobiol Dis 26(2):323-31. Epub 2007 Jan 25.
2007
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| 5 | MTMR2, CMT4B1
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| An animal model for Charcot-Marie-Tooth disease type 4B1.
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| Bonneick S, Boentert M, Berger P, Atanasoski S, Mantei N, Wessig C, Toyka KV, Young P, Suter U.
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| Hum Mol Genet 14(23):3685-95. Epub 2005 Oct 25. 2005
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| 6 | 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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| 7 | CMT4B1, MTMR2, NEFL
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| Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
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| Previtali SC, Zerega B, Sherman DL, Brophy PJ, Dina G, King RH, Salih MM, Feltri L, Quattrini A, Ravazzolo R, Wrabetz L, Monaco AP, Bolino A.
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| Hum Mol Genet 12(14):1713-23. 2003
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| 8 | CMT4B1, MTMR2
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| Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.
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| Berger P, Bonneick S, Willi S, Wymann M, Suter U.
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| Hum Mol Genet 11(13):1569-79. 2002
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| 9 | CMT4B1, MTMR2
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| A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
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| Nelis E, Erdem S, Tan E, Lofgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H.
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| Neuromuscul Disord 12(9):869-73. 2002
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| 10 | CMT4B1, MTMR2
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| Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.
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| Houlden H, King RH, Wood NW, Thomas PK, Reilly MM.
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| Brain 124(Pt 5):907-15. 2001
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| 11 | CMT4B1, MTMR2
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| Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
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| Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP.
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| Nat Genet 25(1):17-9. 2000
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| 12 | CMT4B1
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| Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity.
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| Salih MA, Maisonobe T, Kabiraj M, al Rayess M, al-Turaiki MH, Akbar M, Tahan A, Urtizberea JA, Grid D, Hamadouche T, Guilbot A, Brice A, Leguern E.
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| Neuromuscul Disord 10(1):10-5. 2000
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| 13 | CMT4B1, MTMR2
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| Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.
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| Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP.
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| Genomics 63(2):271-8. 2000
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| 14 | CMT4B1, SCN2B
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| Exclusion of the SCN2B gene as candidate for CMT4B.
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| Bolino A, et al.
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| Eur J Hum Genet 6 : 629-634. 1998
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| 15 | CMT4B1
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| Localization of a gene responsible for autosomal recessive demyelinatingneuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing.
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| Bolino A, et al.
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| Hum Mol Genet 5 : 1051-1054. 1996
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