Referenced in: none

Automatically associated channels: ClC1 , ClC4

Title: [Myotonic dystrophy].

Authors: Shoichi Ishiura, Kosuke Oana, Michinori Koebis

Journal, date & volume: Rinsho Shinkeigaku, 2013 , 53, 1109-11

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24291894

Abstract
No effective treatment was available for myotonic dystrophy, even in animal model. We have established a new antisense oligonucleotide delivery to skeletal muscle of mice with bubble liposomes, and led to increased expression of chloride channel (CLCN1) protein and the amelioration of myotonia. In other experiments, we also identified small molecule compounds that correct aberrant splicing of Clcn1 gene. Manumycin A corrected aberrant splicing of Clcn1 in mouse model.