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Article

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation.

Human molecular genetics - 1 Apr 1995

Wang J, Pegoraro E, Menegazzo E, Gennarelli M, Hoop R C, Angelini C, Hoffman E P

Abstract excerpt

The trinucleotide expansion mutation causing myotonic dystrophy is in the 3' untranslated region of a protein kinase gene. The molecular mechanisms by which the expanded repeat causes the clinically variable and multisystemic disease, myotonic dystrophy, are not understood. It has been particularly difficult to rationalize the dominant inheritance with the fact that the expansion mutation lies outside of the...

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Identifiers

PMID: 7543316
DOI: 10.1093/hmg/4.4.599

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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.

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Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation.PMID 7543316Read ↗

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