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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 expansio...

Topics

Chromosomes, Human, Pair 19
Humans
Mutation
Myotonic Dystrophy
Myotonin-Protein Kinase
Protein Kinases
Protein Serine-Threonine Kinases

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9296833

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9296833-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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