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Article

A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy.

Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Jun 1998

Gennarelli M, Pavoni M, Amicucci P, Novelli G, Dallapiccola B

Abstract excerpt

The myotonic dystrophy (DM) expansion varies from 50 to 4000 CTG repeats in the 3' untranslated region of the DMPK gene. Direct analysis by Southern blot, after restriction enzyme digestion of genomic DNA, is the method of choice for studying the DM mutation. A long polymerase chain reaction (PCR)-formatted protocol, which involved a single genomic in vitro amplification followed by high concentration agarose gel...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9836067
DOI: 10.1097/00019606-199806000-00002

Genes

DMPK

Provenance

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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A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy.PMID 9836067Read ↗

A molecular protocol for diagnosing myotonic dystrophy.Semantic proximity Read ↗

High Throughput Screening for Expanded CTG repeats in Myotonic Dystrophy Type 1 Using Melt Curve AnalysisSemantic proximity Read ↗

A rapid polymerase chain reaction-based test for screening Steinert's disease (DM1).Semantic proximity Read ↗

Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing.Semantic proximity Read ↗

Technical standards and guidelines for myotonic dystrophy type 1 testing.Semantic proximity Read ↗

Distribution of CTG repeats at the DMPK gene in myotonic dystrophy patients and healthy individuals from the Mexican population.Semantic proximity Read ↗

Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR.Semantic proximity Read ↗

Defining the performance parameters of a rapid screening tool for myotonic dystrophy type 1 based on triplet-primed PCR and melt curve analysis.Semantic proximity Read ↗

Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencingSemantic proximity Read ↗

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

The myotonic dystrophy gene.Semantic proximity Read ↗

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