POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Authors

Steafnia DiCostanzo, George Washington University
Anuradha Balasubramanian, Boston Children's Hospital
Heather L. Pond, George Washington University
Anete Rozkalne, Boston Children's Hospital
Chiara Pantaleoni, Fondazione di Ricovero e Cura a Carattere Scientifico Istituto Neurologico C. Besta, Milan, Italy
Simona Saredi, Fondazione di Ricovero e Cura a Carattere Scientifico Istituto Neurologico C. Besta, Milan, Italy
Vandana A. Gupta, Boston Children's Hospital
Christine M. Sunu, Boston Children's Hospital
Timothy W. Yu, Boston Children's Hospital
Peter B. Kang, Boston Children's Hospital
Mustafa A. Salih, King Saud University, Riyadh, Saudi Arabia
Marina Mora, Fondazione di Ricovero e Cura a Carattere Scientifico Istituto Neurologico C. Besta, Milan, Italy
Emanuela Gussoni, Boston CHildren's Hospital
Christopher A. Walsh, Boston Children's HospitalFollow
M. Chiara Manzini, George Washington UniversityFollow

Document Type

Journal Article

Publication Date

11-1-2014

Journal

Human Molecular Genetics

Volume

Volume 23, Issue 21

Inclusive Pages

5781-5792

Keywords

Genetic Association Studies; Muscle Development--genetics; Mutation; Neuromuscular Diseases--diagnosis; Neuromuscular Diseases--genetics; Phenotype; Protein Kinases--genetics

APA Citation

Di Costanzo, S., Balasubramanian, A., Pond, H.L., Rozkalne, A., Pantaleoni, C. et al. (2014). POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Human Molecular Genetics, 23(21), 5781-5792.

Peer Reviewed

1