Article
Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency.
Human molecular genetics - 15 Sept 2004
Ho Mengfatt, Post Cristina M, Donahue Leah R, Lidov Hart G W, Bronson Roderick T, Goolsby Holly, Watkins Simon C, Cox Gregory A, Brown Robert H
Abstract excerpt
Limb girdle muscular dystrophy type 2B and Miyoshi myopathy are clinically distinct forms of muscular dystrophy that arise from defects in the dysferlin gene. Here, we report two novel lines of dysferlin-deficient mice obtained by (a) gene targeting and (b) identification of an inbred strain, A/J, bearing a retrotransposon insertion in the dysferlin gene. The mutations in these mice were located at the 3' and 5'...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.