Article
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping.
Human mutation - 1 Feb 2010
Wein Nicolas, Avril Aurélie, Bartoli Marc, Beley Cyriaque, Chaouch Soraya, Laforêt Pascal, Behin Anthony, Butler-Browne Gillian, Mouly Vincent, Krahn Martin, Garcia Luis, Lévy Nicolas
Abstract excerpt
Mutations in DYSF encoding dysferlin cause primary dysferlinopathies, autosomal recessive diseases that mainly present clinically as Limb Girdle Muscular Dystrophy type 2B and Miyoshi myopathy. More than 350 different sequence variants have been reported in DYSF. Like dystrophin, the size of the dysferlin mRNA is above the limited packaging size of AAV vectors. Alternative strategies to AAV gene transfer in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.