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Article

Myotonic dystrophy: approach to therapy.

Current opinion in genetics & development - 1 Jun 2017

Thornton Charles A, Wang Eric, Carrell Ellie M

Abstract excerpt

Myotonic dystrophy (DM) is a dominantly-inherited genetic disorder affecting skeletal muscle, heart, brain, and other organs. DM type 1 is caused by expansion of a CTG triplet repeat in DMPK, whereas DM type 2 is caused by expansion of a CCTG tetramer repeat in CNBP. In both cases the DM mutations lead to expression of dominant-acting RNAs. Studies of RNA toxicity have now revealed novel mechanisms and new...

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Gene Expression Regulation
Genetic Therapy
Mutation
Myotonic Dystrophy
Myotonin-Protein Kinase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA-Binding Proteins

Trinucleotide Repeat Expansion

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Identifiers

PMID: 28376341
DOI: 10.1016/j.gde.2017.03.007
PMCID: PMC5447481

Genes

CNBP
DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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