Item Type: | Article |
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Title: | Missense mutations of ACTA1 cause dominant congenital myopathy with cores |
Creators Name: | Kaindl, A.M. and Rueschendorf, F. and Krause, S. and Goebel, H.H. and Koehler, K. and Becker, C. and Pongratz, D. and Mueller-Hoecker, J. and Nuernberg, P. and Stoltenburg-Didinger, G. and Lochmueller, H. and Huebner, A. |
Keywords: | Actins, Congenital Structural Myopathies, Genetic Predisposition to Disease, Missense Mutation, Pedigree |
Source: | Journal of Medical Genetics |
ISSN: | 1468-6244 |
Publisher: | BMJ Publishing Group |
Volume: | 41 |
Number: | 11 |
Page Range: | 842-848 |
Date: | 1 January 2004 |
Official Publication: | https://doi.org/10.1136/jmg.2004.020271 |
PubMed: | View item in PubMed |
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