Ontology highlight
ABSTRACT:
SUBMITTER: Gupta VA
PROVIDER: S-EPMC4067060 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Gupta Vandana A VA Beggs Alan H AH
Skeletal muscle 20140601
Our understanding of genes that cause skeletal muscle disease has increased tremendously over the past three decades. Advances in approaches to genetics and genomics have aided in the identification of new pathogenic mechanisms in rare genetic disorders and have opened up new avenues for therapeutic interventions by identification of new molecular pathways in muscle disease. Recent studies have identified mutations of several Kelch proteins in skeletal muscle disorders. The Kelch superfamily is ...[more]