Suggestions

Du même auteur

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Archive ouverte | Barthelemy, Florian | CCSD

International audience. Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dys...

Efficient Bypass of Mutations in Dysferlin Deficient Patient Cells by Antisense-Induced Exon Skipping

Archive ouverte | Wein, Nicolas | CCSD

International audience. Mutations in DYSF encoding dysferlin cause primary dysferlinopathies, autosomal recessive diseases that mainly present clinically as Limb Girdle Muscular Dystrophy type 213 and Miyoshi myopat...

Translational Research and Therapeutic Perspectives in Dysferlinopathies

Archive ouverte | Barthelemy, Florian | CCSD

International audience. Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotype...

Chargement des enrichissements...