Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot-Reference-Cited by-同舟云学术

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Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot

Published:2011-06-23 Issue:8 Volume:56 Page:589-594
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Brown Charlotte A,Scharner Juergen,Felice Kevin,Meriggioli Matthew N,Tarnopolsky Mark,Bower Matthew,Zammit Peter S,Mendell Jerry R,Ellis Juliet A

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg201165.pdf

Reference39 articles.

1. Emery, A. E. Emery-Dreifuss syndrome. J. Med. Genet. 26, 637–641 (1989).

2. Emery, A. E. Emery-Dreifuss muscular dystrophy—a 40 year retrospective. Neuromuscul. Disord. 10, 228–232 (2000).

3. Bonne, G., Yaou, R. B., Beroud, C., Boriani, G., Brown, S., de Visser, M. et al. 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul. Disord. 13, 508–515 (2003).

4. Kubo, S., Tsukahara, T., Takemitsu, M., Yoon, K. B., Utsumi, H., Nonaka, I. et al. Presence of emerinopathy in cases of rigid spine syndrome. Neuromuscul. Disord. 8 (1998).

5. Emery, A. E. The muscular dystrophies. Lancet 359, 687–695 (2002).

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