Article

Differences in splicing defects between the grey and white matter in myotonic dystrophy type 1

2019-10-25

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is a multi-system disorder caused by CTG repeats in the myotonic dystrophy protein kinase ( DMPK ) gene. This leads to sequestration of the splicing factor, muscleblind-like 2 (MBNL2), and aberrant splicing, mainly in the central nervous system. We investigated the splicing patterns of MBNL1/2 and genes controlled by MBNL2 in several regions of the brain and between the grey matt...

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Literature Corpus work: dff56185-6373-5cbf-aa93-69a11d670f46
DOI: 10.1101/819433

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