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Article

Myotonic dystrophy: molecular and cellular consequences of expanded DNA repeats are elusive.

Journal of inherited metabolic disease - 1 Jun 1997

Strong P N, Brewster B S

Abstract excerpt

The mutation in the myotonic dystrophy (DM) gene is an expansion in a triplet (CTG) repeat in the 3' untranslated region of a novel gene that partially encodes a serine-threonine protein kinase (DMPK), with closest sequence homology to a small subgroup of protein kinases involved in the control of proliferation and cell shape. Expansion of the repeat correlates reasonably well with disease severity and offers a...

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Source

Identifiers

PMID: 9211188
DOI: 10.1023/a:1005396420442

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Myotonic dystrophy: molecular and cellular consequences of expanded DNA repeats are elusive.PMID 9211188Read ↗

Myotonic dystrophy: molecular windows on a complex etiology.Semantic proximity Read ↗

Clinical and molecular aspects of the myotonic dystrophies: A reviewSemantic proximity Read ↗

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

Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.Semantic proximity Read ↗

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy.Semantic proximity Read ↗

Myotonic dystrophy: RNA pathogenesis comes into focus.Semantic proximity Read ↗

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

Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.Semantic proximity Read ↗

Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophySemantic proximity Read ↗

A tail-anchored myotonic dystrophy protein kinase isoform induces perinuclear clustering of mitochondria, autophagy, and apoptosis.Semantic proximity Read ↗

Identification, Tissue-specific Expression, and Subcellular Localization of the 80- and 71-kDa Forms of Myotonic Dystrophy Kinase ProteinSemantic proximity Read ↗

[From gene to disease; altered RNA processing as a cause of myotonic dystrophy type 1].Semantic proximity Read ↗

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