Title

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

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

Peer Reviewed

1