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Article

Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1.

Genetic testing and molecular biomarkers - 1 Dec 2012

Addis Maria, Serrenti Marianna, Meloni Cristiana, Cau Milena, Melis Maria Antonietta

Abstract excerpt

Genetic testing of myotonic dystrophy type 1 (DM1) is very important because it enables the diagnosis and indicates the severity of the disease. Mutation analysis is based on the detection of the number of CTG triplets in the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Sometimes it could be complicated by the presence of different patterns of repeat interruptions in the 5' and 3'...

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Source

Identifiers

PMID: 23030650
DOI: 10.1089/gtmb.2012.0218

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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