Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing-Reference-Cited by-同舟云学术

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

Published:2013-02-27 Issue:11 Volume:21 Page:1249-1252
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Scoto Mariacristina,Cullup Thomas,Cirak Sebahattin,Yau Shu,Manzur Adnan Y,Feng Lucy,Jacques Thomas S,Anderson Glenn,Abbs Stephen,Sewry Caroline,Jungbluth Heinz,Muntoni Francesco

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201331.pdf

Reference19 articles.

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2. Donner K, Sandbacka M, Lehtokari VL, Wallgren-Pettersson C, Pelin K : Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. Eur J Hum Genet 2004; 12: 744–751.

3. Labeit S, Ottenheijm CA, Granzier H : Nebulin, a major player in muscle health and disease. FASEB J 2011; 25: 822–829.

4. Wallgren-Pettersson C, Donner K, Sewry C et al: Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromuscul Disord 2002; 12: 674–679.

5. Wallgren-Pettersson C, Pelin K, Nowak KJ et al: Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord 2004; 14: 461–470.

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