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Article

Incidence of amplification failure in DMPK allele due to allelic dropout event in a diagnostic laboratory.

Clinica chimica acta; international journal of clinical chemistry - 1 Sept 2018

De Siena Claudia, Cardani Rosanna, Brigonzi Elisa, Bosè Francesca, Fossati Barbara, Meola Giovanni, Costa Elena, Valaperta Rea

Abstract excerpt

BACKGROUND: Myotonic dystrophy type 1 (DM1) is caused by an expanded CTG repeat in the non-coding 3' UTR of the DMPK gene. PCR and Southern Blot Analysis (SBA) of long-range PCR represent the routine molecular testing most widely used for DM1 diagnosis. However, in these conventional methods artifacts such as allele dropout (ADO) represent a risk of misdiagnosis for DM1. Subjects, who show a single product by...

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Source

Identifiers

PMID: 29803895
DOI: 10.1016/j.cca.2018.05.040

Genes

DMPK
ADO

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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