Missense mutations of ACTA1 cause dominant congenital myopathy with cores

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Item Type:	Article
Title:	Missense mutations of ACTA1 cause dominant congenital myopathy with cores
Creators:	Kaindl, A.M., Rueschendorf, F. ORCID: https://orcid.org/0000-0001-5640-810X, Krause, S., Goebel, H.H., Koehler, K., Becker, C., Pongratz, D., Mueller-Hoecker, J., Nuernberg, P., Stoltenburg-Didinger, G., 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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