Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy-Reference-Cited by-同舟云学术

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

Published:2007-08-05 Issue:9 Volume:39 Page:1134-1139
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Nicot Anne-Sophie,Toussaint Anne,Tosch Valérie,Kretz Christine,Wallgren-Pettersson Carina,Iwarsson Erik,Kingston Helen,Garnier Jean-Marie,Biancalana Valérie,Oldfors Anders,Mandel Jean-Louis,Laporte Jocelyn

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng2086.pdf

Reference30 articles.

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2. Bitoun, M. et al. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat. Genet. 37, 1207–1209 (2005).

3. Jeannet, P.Y. et al. Clinical and histologic findings in autosomal centronuclear myopathy. Neurology 62, 1484–1490 (2004).

4. Pierson, C.R., Tomczak, K., Agrawal, P., Moghadaszadeh, B. & Beggs, A.H. X-linked myotubular and centronuclear myopathies. J. Neuropathol. Exp. Neurol. 64, 555–564 (2005).

5. Wallgren-Pettersson, C. et al. The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J. Med. Genet. 32, 673–679 (1995).

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