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

Dysferlin Exon 32 Skipping in Patient Cells.

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.

KEYWORDS:

Dysferlin; Exon skipping; Muscular dystrophies; RNA editing; Therapies

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