Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
Document Type
Journal Article
Publication Date
6-1-2015
Student Program
IBS
Journal
European Journal of Human Genetics
Volume
23
Issue
6
Inclusive Pages
883-886
DOI
10.1038/ejhg.2014.169
Keywords
Actins; Adult; Amino Acid Sequence; Genes, Recessive; Humans; Male; Molecular Sequence Data; Mutation, Missense; Myopathies, Structural, Congenital; Polymorphism, Single Nucleotide; Siblings; Spine
APA Citation
O'Grady, G., Best, H., Oates, E., Kaur, S., Charlton, A., Brammah, S., Punetha, J., Kesari, A., North, K., Ilkovski, B., Hoffman, E., & Clarke, N. (2015). Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.. European Journal of Human Genetics, 23 (6). http://dx.doi.org/10.1038/ejhg.2014.169
Peer Reviewed
1
