Ontology highlight
ABSTRACT:
SUBMITTER: Swaggart KA
PROVIDER: S-EPMC4000833 | biostudies-other | 2014 Apr
REPOSITORIES: biostudies-other
Proceedings of the National Academy of Sciences of the United States of America 20140409 16
Many monogenic disorders, including the muscular dystrophies, display phenotypic variability despite the same disease-causing mutation. To identify genetic modifiers of muscular dystrophy and its associated cardiomyopathy, we used quantitative trait locus mapping and whole genome sequencing in a mouse model. This approach uncovered a modifier locus on chromosome 11 associated with sarcolemmal membrane damage and heart mass. Whole genome and RNA sequencing identified Anxa6, encoding annexin A6, a ...[more]