Citations for
1CMT2C, SPSMA, TRPV4
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
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.
Nat Genet 42(2):165-9. Epub 2009 Dec 27.PMID: 20037587 2010
2CMT2C, SPSMA, TRPV4
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
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.
Nat Genet 42(2):160-4. Epub 2009 Dec 27.PMID: 20037588 2010
3BCYM3, CBSMA, CMT2C, METTD, SMDK, SPSMA, TRPV4
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
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.
J Med Genet 47(10):704-9. Epub 2010 Jun 24.PMID: 20577006 2010
4CBSMA, CMT2C, DMNJ, DSMAVA, DSMAX, SMAR, SMARD1, SPSMA
A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.
Takata RI, Speck Martins CE, Passosbueno MR, Abe KT, Nishimura AL, Da Silva MD, Monteiro A Jr, Lima MI, Kok F, Zatz M.
J Med Genet 41(3):224-9. No abstract available. 2004
5SPSMA
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.
Isozumi K, DeLong R, Kaplan J, Hung WY, Siddique T.
Hum Genet 99(6):701-3. 1997
6SPSMA
Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.
Wilhelmsen KC, et al.
Ann Neurol 39 : 507-520. 1996
7SPSMA
Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.
Isozumi K, et al.
Hum Mol Genet 5 : 1377-1382. 1996
8SPSMA
A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features.
DeLong R, Siddique T.
Arch Neurol 49(9):905-8. 1992