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Article

The myotonic dystrophy gene.

Archives of neurology - 1 Nov 1993

Pizzuti A, Friedman D L, Caskey C T

Abstract excerpt

The myotonic dystrophy gene codes for a protein kinase and contains a repeated trinucleotide motif (adenine-guanine-cytosine [AGC]) in its transcribed sequence. The repeat is polymorphic in the general population, varying in size from five to 37 AGC units in normal alleles. Myotonic dystrophy patients show expansions of the repeated sequence from over 50 elements up to several thousand units. There is a positive...

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Source

Identifiers

PMID: 8215976
DOI: 10.1001/archneur.1993.00540110053005

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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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