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Article

Dominantly inherited, non-coding microsatellite expansion disorders.

Current opinion in genetics & development - 1 Jun 2002

Ranum Laura P W, Day John W

Abstract excerpt

Dominantly inherited diseases are generally caused by mutations resulting in gain of function protein alterations. However, a CTG expansion located in the 3' untranslated portion of a kinase gene was found to cause myotonic dystrophy type 1, a multisystemic dominantly inherited disorder. The recent discovery that an untranslated CCTG expansion causes the same constellation of clinical features in myotonic...

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Identifiers

PMID: 12076668
DOI: 10.1016/s0959-437x(02)00297-6

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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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