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Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1

Kimura, Takashi; Nakamori, Masayuki; Lueck, John D; Pouliquin, Pierre; Aoike, Futoshi; Fujimura, Harutoshi; Dirksen, Robert; Takahashi, Masanori; Dulhunty, Angela; Sakoda, Saburo


Myotonic dystrophy type 1 (DM1) is a debilitating multisystemic disorder caused by a CTG repeat expansion in the DMPK gene. Aberrant splicing of several genes has been reported to contribute to some symptoms of DM1, but the cause of muscle weakness in DM1 and elevated Ca2+ concentrations in cultured DM muscle cells is unknown. Here, we investigated the alternative splicing of mRNAs of two major proteins of the sarcoplasmic reticulum, the ryanodine receptor 1 (RyR1) and sarcoplasmic/endoplasmic...[Show more]

CollectionsANU Research Publications
Date published: 2005
Type: Journal article
Source: Human Molecular Genetics
DOI: 10.1093/hmg/ddi223


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