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Items: 3

1.

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.

Shelton GD, Rider BE, Child G, Tzannes S, Guo LT, Moghadaszadeh B, Troiano EC, Haase B, Wade CM, Beggs AH.

Skelet Muscle. 2015 Jan 27;5(1):1. doi: 10.1186/s13395-014-0025-3. eCollection 2015.

2.

Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.

Childers MK, Joubert R, Poulard K, Moal C, Grange RW, Doering JA, Lawlor MW, Rider BE, Jamet T, Danièle N, Martin S, Rivière C, Soker T, Hammer C, Van Wittenberghe L, Lockard M, Guan X, Goddard M, Mitchell E, Barber J, Williams JK, Mack DL, Furth ME, Vignaud A, Masurier C, Mavilio F, Moullier P, Beggs AH, Buj-Bello A.

Sci Transl Med. 2014 Jan 22;6(220):220ra10. doi: 10.1126/scitranslmed.3007523.

3.

Selenoprotein N deficiency in mice is associated with abnormal lung development.

Moghadaszadeh B, Rider BE, Lawlor MW, Childers MK, Grange RW, Gupta K, Boukedes SS, Owen CA, Beggs AH.

FASEB J. 2013 Apr;27(4):1585-99. doi: 10.1096/fj.12-212688. Epub 2013 Jan 16.

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