Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.

Authors

Gina L O'Grady
Heather A Best
Emily C Oates
Simranpreet Kaur
Amanda Charlton
Susan Brammah
Jaya Punetha, George Washington University - School of Medicine and Health Sciences
Akanchha Kesari
Kathryn N North
Biljana Ilkovski
Eric P HoffmanFollow
Nigel F Clarke

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