X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene-Reference-Cited by-同舟云学术

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

Published:2015-01-27 Issue:1 Volume:5 Page:
ISSN:2044-5040
Container-title:Skeletal Muscle
language:en
Short-container-title:Skeletal Muscle

Author:

Shelton G Diane,Rider Branden E,Child Georgina,Tzannes Sophia,Guo Ling T,Moghadaszadeh Behzad,Troiano Emily C,Haase Bianca,Wade Claire M,Beggs Alan H

Publisher

Springer Science and Business Media LLC

Subject

Cell Biology,Molecular Biology,Orthopedics and Sports Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13395-014-0025-3.pdf

Reference42 articles.

1. Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH. X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol. 2005;64:555–64.

2. Biancalana V, Beggs AH, Das S, Jungbluth H, Kress W, Nishino I, et al. Clinical utility gene card for: Centronuclear and myotubular myopathies. Eur J Hum Genet. 2012; 20. doi: 10.1038/ejhg.2012.91.

3. North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, et al. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord. 2014;24:97–116.

4. Bohm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat. 2012;33:949–59.

5. Prokic I, Cowling BS, Laporte J. Amphiphysin 2 (BIN1) in physiology and diseases. J Mol Med (Berl). 2014;92:453–63.

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