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Article

Technical standards and guidelines for myotonic dystrophy type 1 testing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2009

Prior Thomas W

Abstract excerpt

Myotonic dystrophy type 1 is an autosomal dominant multisystem condition. Myotonic dystrophy type 1 is the result of an unstable CTG expansion in the 3'-untranslated region of the myotonic dystrophy protein kinase gene. The age of onset and the severity of the phenotype are roughly correlated with the size of the CTG expansion. The combination of Southern transfer and polymerase chain reaction provides an...

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Identifiers

PMID: 19546810
DOI: 10.1097/GIM.0b013e3181abce0f

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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.

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