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Article

Alternative splicing alterations of Ca 2+ handling genes are associated with Ca 2+ signal dysregulation in myotonic dystrophy type 1 ( DM 1) and type 2 ( DM 2) myotubes

29 Jul 2013

Abstract excerpt

AIMS: The pathogenesis of myotonic dystrophy type 1 (DM1) and type 2 (DM2) has been related to the aberrant splicing of several genes, including those encoding for ryanodine receptor 1 (RYR1), sarcoplasmatic/endoplasmatic Ca(2+)-ATPase (SERCA) and α1S subunit of voltage-gated Ca(2+) channels (Cav 1.1). The aim of this study is to determine whether alterations of these genes are associated with changes in the...

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PMID: 23888875
DOI: 10.1111/nan.12076

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