| 1 | DSMAVA, GARS
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| Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.
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| James PA, Cader MZ, Muntoni F, Childs AM, Crow YJ, Talbot K.
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| Neurology 67(9):1710-2. Erratum in: Neurology. 2007 Feb 27;68(9):711. 2006
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| 2 | 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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| 3 | CMT2D, DSMAVA, GARS
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| Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
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| Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED.
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| Am J Hum Genet 72(5):1293-9. Epub 2003 Apr 10. 2003
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| 4 | DSMAVA, SMA
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| Proximal and distal spinal muscular atrophy in one family : molecular genetic studies provide further evidence for the non-allelic origin of both diseases.
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| Spranger S, et al.
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| J Med Genet 34 : 340-342. 1997
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| 5 | DSMAVA
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| Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.
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| Christodoulou K, et al.
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| Hum Mol Genet 4 : 1629-1632. 1995
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