A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.

Authors

Jaya Punetha
Akanchha Kesari
Eric P. Hoffman, George Washington UniversityFollow
Monika Gos
Anna Kamińska
Anna Kostera-Pruszczyk
Irena Hausmanowa-Petrusewicz
Ying Hu
Yaqun Zou
Carsten G Bönnemann
Maria Jędrzejowska

Document Type

Journal Article

Publication Date

6-27-2016

Journal

Muscle & Nerve

Volume

55

Issue

2

Inclusive Pages

277-281

DOI

10.1002/mus.25232

Comments

This is an open access PubMed Central article. Click on link for full-text access.

APA Citation

Punetha, J., Kesari, A., Hoffman, E. P., Gos, M., Kamińska, A., Kostera-Pruszczyk, A., Hausmanowa-Petrusewicz, I., Hu, Y., Zou, Y., Bönnemann, C., & Jędrzejowska, M. (2016). A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.. Muscle & Nerve, 55 (2). http://dx.doi.org/10.1002/mus.25232

Peer Reviewed

1

Open Access

1