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Article

Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.

Human molecular genetics - 1 Jun 1999

Korade-Mirnics Z, Tarleton J, Servidei S, Casey R R, Gennarelli M, Pegoraro E, Angelini C, Hoffman E P

Abstract excerpt

Myotonic dystrophy (DM), the most common inherited muscle disorder, is caused by a CTG expansion in the 3"-untranslated region of a protein kinase gene ( DMPK ). The complex and variable phenotype is most likely caused by a complex molecular pathogenesis, including deficiency of the DMPK protein, a trans -dominant misregulation of RNA homeostasis and haploinsufficiency of a neighboring homeobox gene [DM...

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Source

Identifiers

PMID: 10332033
DOI: 10.1093/hmg/8.6.1017

Genes

SIX5
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: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.PMID 10332033Read ↗

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

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

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

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP geneSemantic proximity Read ↗

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem CellsSemantic proximity Read ↗

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

Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities.Semantic proximity Read ↗

Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy.Semantic proximity Read ↗

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation.Semantic proximity Read ↗

Aberrant Myokine Signaling in Congenital Myotonic DystrophySemantic proximity Read ↗

Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1.Semantic proximity Read ↗

RNA splicing is responsive to MBNL1 dose.Semantic proximity Read ↗

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