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Article

Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.

The Journal of molecular diagnostics : JMD - 1 Jul 2013

Kalman Lisa, Tarleton Jack, Hitch Monica, Hegde Madhuri, Hjelm Nick, Berry-Kravis Elizabeth, Zhou Lili, Hilbert James E, Luebbe Elizabeth A, Moxley Richard T, Toji Lorraine

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG triplet repeat in the 3' untranslated region of the DMPK gene that encodes a serine-threonine kinase. Patients with larger repeats tend to have a more severe phenotype. Clinical laboratories require reference and quality control materials for DM1 diagnostic and carrier genetic testing. Well-characterized reference materials are not available. To...

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Source

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Identifiers

PMID: 23680132
DOI: 10.1016/j.jmoldx.2013.03.008
PMCID: PMC3699699

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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