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Article

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

American journal of human genetics - 1 Jun 1993

Harley H G, Rundle S A, MacMillan J C, Myring J, Brook J D, Crow S, Reardon W, Fenton I, Shaw D J, Harper P S

Abstract excerpt

A clinical and molecular analysis of 439 individuals affected with myotonic dystrophy, from 101 kindreds, has shown that the size of the unstable CTG repeat detected in nearly all cases of myotonic dystrophy is related both to age at onset of the disorder and to the severity of the phenotype. The largest repeat sizes (1.5-6.0 kb) are seen in patients with congenital myotonic dystrophy, while the minimally...

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Source

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Identifiers

PMID: 8503448
PMCID: PMC1682262

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.PMID 8503448Read ↗

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