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ORIGINAL ARTICLE

A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient

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Pages 530-531 | Received 26 Feb 2015, Accepted 10 May 2015, Published online: 22 Jul 2015

References

  • Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, et al. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci. 2014;5:664–6.
  • Lin KP, Tsai PC, Liao YC, Chen WT, Tsai CP, Soong BW, et al. Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis. Neurobiol Aging. 2015;36:2005.e1–4.
  • Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, et al.Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, Matrin 3. Am J Hum Genet. 2009;4:511–8.
  • Millecamps S, de Septenville A, Teyssou E, Daniau M, Camuzat A, Albert M, et al. Genetic analysis of Matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients. Neurobiol Aging. 2014;35:2882.e13–5.
  • Fifita JA, Williams KL, McCann EP, O’Brien A, Bauer DC, Nicholson GA, et al. Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis. Neurobiol Aging. 2015;36:1602e.1–2.

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