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Article

Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy.

Genomics - 1 Nov 1993

Carango P, Noble J E, Marks H G, Funanage V L

Abstract excerpt

Myotonic dystrophy is an autosomally dominant inherited disease in which system-wide abnormalities are caused by a triplet repeat expansion within the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. To determine the effect an expanded repeat region has on DMPK express...

Topics

Adult
Alleles
Animals
Base Sequence
CHO Cells
Cells, Cultured
Chromosomes, Human, Pair 19
Cricetinae
DNA
Female
Humans
Hybrid Cells
Introns

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Myotonic Dystrophy

Myotonin-Protein Kinase

Pedigree

Source

Identifiers

PMID: 8288237
DOI: 10.1006/geno.1993.1474

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8288237-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy.PMID 8288237Read ↗

Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy.Semantic proximity Read ↗

Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genesSemantic proximity Read ↗

Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing.Semantic proximity Read ↗

Myotonic dystrophy: molecular and cellular consequences of expanded DNA repeats are elusive.Semantic proximity Read ↗

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeatSemantic proximity Read ↗

Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)?Semantic proximity Read ↗

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytesSemantic proximity Read ↗

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts.Semantic proximity Read ↗

Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat.Semantic proximity Read ↗

Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure.Semantic proximity Read ↗

Mutant DMPK 3'-UTR transcripts disrupt C2C12 myogenic differentiation by compromising MyoD.Semantic proximity Read ↗

Fluorescence in situ hybridization analysis of the replication properties of the myotonic dystrophy protein kinase (DMPK) gene region.Semantic proximity Read ↗

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