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Article

Presymptomatic diagnosis of myotonic dystrophy.

Journal of medical genetics - 1 Nov 1992

Brunner H G, Nillesen W, van Oost B A, Jansen G, Wieringa B, Ropers H H, Smeets H J

Abstract excerpt

The discovery of an expanded (CTG)n repeat sequence in myotonic dystrophy (DM) has greatly improved our ability to detect DM gene carriers who have few or none of the classical signs of this disorder. We report here our experience with two such groups of gene carriers. We used a PCR based protocol that should be especially sensitive to small increases in CTG triplet number which might escape detection by...

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Identifiers

PMID: 1453426
DOI: 10.1136/jmg.29.11.780
PMCID: PMC1016170

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

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