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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 association between expanded CTG alleles and the 1-kb insertion allele of an intragenic polymorphism in Caucasians has...

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Identifiers

PMID: 7825567
PMCID: PMC1801327

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