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Article

Normal variation at the myotonic dystrophy locus in global human populations.

American journal of human genetics - 1 Jan 1995

Zerylnick C, Torroni A, Sherman S L, Warren S T

Abstract excerpt

Myotonic dystrophy (DM) is a dominant neuromuscular disease that results from an unstable CTG-repeat expansion in the 3' UTR of the myotonin kinase gene at 19q13.3. This repeat is normally polymorphic with a trimodal distribution reflecting 5-, 11-17-, and 19-30-repeat-length alleles. An absolute...

Topics

Alleles
Base Sequence
Genetic Variation
Humans
Minisatellite Repeats
Molecular Sequence Data
Myotonic Dystrophy
Myotonin-Protein Kinase
Polymerase Chain Reaction
Protein Kinases
Protein Serine-Threonine Kinases
Racial Groups

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PMID: 7825567
PMCID: PMC1801327

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7825567-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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