Methods Mol Biol. 2018;1828:489-496. doi: 10.1007/978-1-4939-8651-4_31.

Dysferlin Exon 32 Skipping in Patient Cells.

Barthélémy F^1,², Courrier S³, Lévy N^3,⁴, Krahn M^3,⁴, Bartoli M⁵.

Author information

1: Microbiology Immunology and Molecular Genetics, University of California Los Angeles, Los Angeles, CA, USA.
2: Center for Duchenne Muscular Dystrophy, University of California Los Angeles, Los Angeles, CA, USA.
3: Aix Marseille Univ, INSERM, Marseille Medical Genetics (MMG), Marseille, France.
4: APHM, Département de génétique Médicale, Hôpital d'enfants la Timone, Marseille, France.
5: Aix Marseille Univ, INSERM, Marseille Medical Genetics (MMG), Marseille, France. marc.bartoli@univ-amu.fr.

Abstract

Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize the skipping of exon 32 at the RNA and protein levels using an antisense oligonucleotide on cells derived from a dysferlinopathy-affected patient.