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Article

Pathogenic mechanisms of myotonic dystrophy.

Biochemical Society transactions - 1 Dec 2009

Lee Johanna E, Cooper Thomas A

Abstract excerpt

DM (myotonic dystrophy) is a dominantly inherited genetic disorder that is the most common cause of muscular dystrophy in adults affecting 1 in 8500 individuals worldwide. Different microsatellite expansions in two loci cause different forms of the disease that share similar features: DM1 (DM type 1) is caused by a tri- (CTG) nucleotide expansion within the DMPK (dystrophia myotonica protein kinase)...

Topics

3' Untranslated Regions
Alternative Splicing
Animals
CELF1 Protein
Cell Nucleus
Humans
Mutation
Myotonic Dystrophy
RNA-Binding Proteins
Trinucleotide Repeat Expansion

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19909263
DOI: 10.1042/BST0371281
PMCID: PMC3873089

Genes

MBNL1
DMPK

Provenance

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

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