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Article

[Myotonic dystrophy and myotonin kinase protein gene mutation].

Bratislavske lekarske listy - 1 May 1997

Ruscák J

Abstract excerpt

Myotonic dystrophy (DM) is an autosomal dominant defect associated with an underlying CTG trinucleotide repeat expansion of the myotonin protein kinase (MTPK) gene at a locus on chromosome 19 (19q13.3). The triplet repeat expansions occur in 3'non-coding regions of MTPK genes, CTG repeat expansions predetermine the clinical severity and the age at which the disease occurs: the larger the expansions, the higher...

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PMID: 9296833

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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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