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Article

Direct molecular diagnosis of myotonic dystrophy.

Clinical genetics - 1 Jun 1993

Hecht B K, Donnelly A, Gedeon A K, Byard R W, Haan E A, Mulley J C

Abstract excerpt

Myotonic dystrophy (DM) arises from an unstable trinucleotide (CTGn) repeat sequence within the DM locus at 19q13.3. Twenty-three myotonic dystrophy families containing 205 persons with no symptoms, minimal manifestations, classic DM or congenital DM were investigated to validate the application of the pM10M6 probe to direct molecular diagnosis. Affected family members had been diagnosed clinically and the...

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Identifiers

PMID: 8370146
DOI: 10.1111/j.1399-0004.1993.tb03819.x

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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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