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Article

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.

Science (New York, N.Y.) - 3 Aug 2001

Liquori C L, Ricker K, Moseley M L, Jacobsen J F, Kress W, Naylor S L, Day J W, Ranum L P

Abstract excerpt

Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). DM1 is caused by a CTG expansion in the 3' untranslated region of the dystrophia myotonica-protein kinase gene (DMPK). Several mechanisms have been invoked to explain how this mutation, which does not alter the protein-coding portion of a gene, causes the...

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Identifiers

PMID: 11486088
DOI: 10.1126/science.1062125

Genes

DMPK

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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.

Related research

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Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.Semantic proximity Read ↗

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