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Article

(CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients.

Biochemical medicine and metabolic biology - 1 Aug 1993

Novelli G, Gennarelli M, Menegazzo E, Mostacciuolo M L, Pizzuti A, Fattorini C, Tessarolo D, Tomelleri G, Giacanelli M, Danieli G A

Abstract excerpt

A genotype-phenotype study based on the primary clinical features of adult myotonic dystrophy (DM) included 116 patients from 62 Italian pedigrees. A significant correlation between clinical severity and the number of repeats at the 3' untranslated region of the myotonin-protein kinase gene (MT-PK) was found. These results suggest that the CTG amplification is directly related to the myotonic dystrophy phenotype...

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Identifiers

PMID: 8373638
DOI: 10.1006/bmmb.1993.1049

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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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