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Missense mutations of ACTA1 cause dominant congenital myopathy with cores

Item Type:Article
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 (U.K.)
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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