Screening of the CAPN3 gene in patients with possible LGMD2A-Reference-Cited by-同舟云学术

Screening of the CAPN3 gene in patients with possible LGMD2A

Published:2006-03-28 Issue:5 Volume:69 Page:444-449
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Krahn Martin,Bernard Rafaëlle,Pécheux Christophe,Hammouda El Hadi,Eymard Bruno,Munain Adolfo Lopez de,Cobo Anna Maria,Romero Norma,Urtizberea Andoni,Leturcq France,Lévy Nicolas,

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2006.00603.x/fullpdf

Reference6 articles.

1. Calpainopathy-a survey of mutations and polymorphisms;Richard;Am J Hum Genet,1999

2. http://www.dmd.nl

3. LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene;Saenz;Brain,2005

4. Molecular diagnosis in LGMD2A: mutation analysis or protein testing?;Fanin;Hum Mutat,2004

5. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies);Anderson;Neuromuscul Disord,2000

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