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

Human molecular genetics - 1 Aug 2005

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

Abstract excerpt

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...

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Identifiers

PMID: 15972723
DOI: 10.1093/hmg/ddi223

Genes

DMPK

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