Exon Skipping in a Dysf-Missense Mutant Mouse Model

• Main Authors: Jakub Malcher (Author), Leonie Heidt (Author), Aurélie Goyenvalle (Author), Helena Escobar (Author), Andreas Marg (Author), Cyriaque Beley (Author), Rachid Benchaouir (Author), Michael Bader (Author), Simone Spuler (Author), Luis García (Author), Verena Schöwel (Author)
• Format: Book
• Published: Elsevier, 2018-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and progressive muscle wasting. Dysferlin-null mo...