Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy

Authors

Bethany Friedman, GeneDx, Gaithersburg, MD
Kara Simpson, George Washington University
Carolina Tesi-Rocha, Children's National Medical Center
Delu Zhou, University of Utah
Cheryl A. Palmer, University of Utah
Sharon F. Suchy, GeneDx, Gaithersburg, MD

Document Type

Journal Article

Publication Date

4-2014

Journal

Neuromuscular Disorders

Volume

Volume 24, Issue 4

Inclusive Pages

331-334

Keywords

Actins--genetics; Myopathies, Nemaline--genetics; Sequence Deletion

APA Citation

Friedman, B., Simpson, K., Tesi-Rocha, C., Zhou, D., Palmer, C.A. et al. (2014). Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy. Neuromuscular Disorders, 24(4), 331-334.

Peer Reviewed

1