Figure 2

Therapeutic strategies currently being tested. Dysferlinopathies are an ensemble of pathologies, due to mutations in the DYSF gene. Wide spectrums of mutations are responsible for the pathologies, including missense, nonsense, frameshift, deletion, insertion and splicing mutations. Currently, two main types of strategies are envisaged: gene transfer (AAV concatemerization, or minigene) and mRNA surgery (exon-skipping and transsplicing strategies). Black arrows indicate strategies available for all gene mutations, whereas dashed arrows indicate mutation-specific strategies (mutations in exon 32 for exon skipping, 3′ mutations for trans-splicing). Inverted terminal repeats (ITRs) are the adeno-associated vector backbone.