The present invention relates to methods for restoring the function of a mutated dysferlin comprising the step of preventing splicing of one or more exons which encode amino acid sequences that cause said dysferlin dysfunction. Particularly, the splicing of exon 32 is prevented. The present invention also relates to a method for treating a dysferlinopathy in a patient in need thereof, comprising the step of administering to said patient antisense oligonucleotides complementary to nucleic acid sequences that are necessary for correct splicing of one or more exons which encode amino acid sequences that cause said dysfunction. Particularly, the splicing of exon 32 is prevented.
申请公布号
WO2011054659(A1)
申请公布日期
2011.05.12
申请号
WO2010EP65606
申请日期
2010.10.18
申请人
INSERM (INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE);LEVY, NICOLAS;KRAHN, MARTIN;BARTOLI, MARC;GARCIA, LUIS
发明人
LEVY, NICOLAS;KRAHN, MARTIN;BARTOLI, MARC;GARCIA, LUIS