Article

Analysis of splicing abnormalities in the white matter of myotonic dystrophy type 1 brain using RNA-sequence

2022-12-24

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by the genomic expansions of CTG repeats, in which RNA-binding proteins, such as muscleblind-like protein, are sequestered in the nucleus, and abnormal splicing is observed in various genes. Although abnormal splicing reportedly occurs in the brains of patients with DM1, it is relation to the central nervous system symptoms is unknown. Several imag...

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Literature Corpus work: 05e3c967-02a9-57e3-96c7-ea5f49834f92
DOI: 10.1101/2022.12.23.521721

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