| 1 | CMT2C, TRPV4
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| Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.
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| Landouré G, Sullivan JM, Johnson JO, Munns CH, Shi Y, Diallo O, Gibbs JR, Gaudet R, Ludlow CL, Fischbeck KH, Traynor BJ, Burnett BG, Sumner CJ.
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| Neurology 79(2):192-4. doi: 10.1212/WNL.0b013e31825f04b2. Epub 2012 Jun 6. No abstract available.
2012
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| 2 | CMT2C, TRPV4
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| TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.
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| Klein CJ, Shi Y, Fecto F, Donaghy M, Nicholson G, McEntagart ME, Crosby AH, Wu Y, Lou H, McEvoy KM, Siddique T, Deng HX, Dyck PJ.
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| Neurology 76(10):887-94. Epub 2011 Feb 2.
2011
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| 3 | CMT2C, SPSMA, TRPV4
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| Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
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| Deng HX, Klein CJ, Yan J, Shi Y, Wu Y, Fecto F, Yau HJ, Yang Y, Zhai H, Siddique N, Hedley-Whyte ET, Delong R, Martina M, Dyck PJ, Siddique T.
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| Nat Genet 42(2):165-9. Epub 2009 Dec 27.PMID: 20037587 2010
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| 4 | CMT2C, SPSMA, TRPV4
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| Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
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| Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, Strohmaier H, Lochmüller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C.
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| Nat Genet 42(2):160-4. Epub 2009 Dec 27.PMID: 20037588 2010
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| 5 | CMT2C, TRPV4
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| Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
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| Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ.
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| Nat Genet 42(2):170-4. Epub 2009 Dec 27.
2010
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| 6 | BCYM3, CBSMA, CMT2C, METTD, SMDK, SPSMA, TRPV4
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| Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
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| Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S.
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| J Med Genet 47(10):704-9. Epub 2010 Jun 24.PMID: 20577006 2010
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| 7 | CMT2C, TRPV4
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| CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.
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| Chen DH, Sul Y, Weiss M, Hillel A, Lipe H, Wolff J, Matsushita M, Raskind W, Bird T.
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| Neurology 75(22):1968-75.
2010
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| 8 | CMT2C
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| Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24.
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| McEntagart ME, Reid SL, Irrthum A, Douglas JB, Eyre KE, Donaghy MJ, Anderson NE, Rahman N.
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| Ann Neurol 57(2):293-7. Erratum in: Ann Neurol. 2005 Apr;57(4):609. Irtthum, Alexandre [corrected to Irrthum, Alexandre]. 2005
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| 9 | CBSMA, CMT2C, DMNJ, DSMAVA, DSMAX, SMAR, SMARD1, SPSMA
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| A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.
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| Takata RI, Speck Martins CE, Passosbueno MR, Abe KT, Nishimura AL, Da Silva MD, Monteiro A Jr, Lima MI, Kok F, Zatz M.
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| J Med Genet 41(3):224-9. No abstract available. 2004
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| 10 | CMT2C
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| The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders.
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| Klein CJ, Cunningham JM, Atkinson EJ, Schaid DJ, Hebbring SJ, Anderson SA, Klein DM, Dyck PJ, Litchy WJ, Thibodeau SN, Dyck PJ.
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| Neurology 60(7):1151-6. 2003
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| 11 | CMT2C
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| Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family.
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| Santoro L, Manganelli F, Di Maio L, Barbieri F, Carella M, D'Adamo P, Casari G.
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| Neuromuscul Disord 12(4):399-404. 2002
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| 12 | CMT2C, DHMN7A
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| Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.
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| McEntagart M, Norton N, Williams H, Teare MD, Dunstan M, Baker P, Houlden H, Reilly M, Wood N, Harper PS, Futreal PA, Williams N, Rahman N.
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| Am J Hum Genet 68(5):1270-6. Epub 2001 Apr 4. 2001
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| 13 | CMT2C
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| Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?
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| Boltshauser E, Lang W, Spillmann T, Hof E.
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| J Med Genet 26(2):105-8. 1989
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| 14 | CMT2C
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| Hereditary distal spinal muscular atrophy with vocal cord paralysis.
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| Young ID, Harper PS.
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| J Neurol Neurosurg Psychiatry 43(5):413-08. 1980
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