| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | SPSMA
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| Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation.
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| Isozumi K, DeLong R, Kaplan J, Hung WY, Siddique T.
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| Hum Genet 99(6):701-3. 1997
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| 6 | SPSMA
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| Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.
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| Wilhelmsen KC, et al.
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| Ann Neurol 39 : 507-520. 1996
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| 7 | SPSMA
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| Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.
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| Isozumi K, et al.
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| Hum Mol Genet 5 : 1377-1382. 1996
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| 8 | SPSMA
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| A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features.
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| DeLong R, Siddique T.
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| Arch Neurol 49(9):905-8. 1992
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