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Article

[Molecular genetics of myotonic dystrophy].

Rinsho shinkeigaku = Clinical neurology - 1 Dec 1995

Miki T, Yamagata H, Ogihara T

Abstract excerpt

The gene for myotonic dystrophy (DM) was found to be an expansion of an unstable CTG repeat located in the 3'-UTR of the putative protein kinase gene. In the general population 5 approximately 37 copies of the repeat are present, but in DM patients the repeat number varies from 50 up to thousands of copies. We have determined the copy number of the CTG repeat and made a haplotype using the closely linked markers...

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PMID: 8752436

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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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