| 1 | 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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| 2 | CBSMA, TRPV4
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| Autosomal dominant congenital spinal muscular atrophy--a possible developmental deficiency of motor neurones?
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| Reddel S, Ouvrier RA, Nicholson G, Dierick I, Irobi J, Timmerman V, Ryan MM.
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| Neuromuscul Disord 18(7):530-5. Epub 2008 Jun 24. Review.PMID: 18579380 2008
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| 3 | 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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| 4 | CBSMA, HSPB8
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| Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.
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| van der Vleuten AJ, van Ravenswaaij-Arts CM, Frijns CJ, Smits AP, Hageman G, Padberg GW, Kremer H.
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| Eur J Hum Genet 6(4):376-82. 1998
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| 5 | CBSMA
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| Dominant congenital benign spinal muscular atrophy.
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| Frijns CJ, et al.
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| Muscle Nerve 17 : 192-197. 1994
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