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Article

Sibship stability of genotype and phenotype in myotonic dystrophy.

Clinical genetics - 1 Sept 2002

Brisson D, Tremblay M, Prévost C, Laberge C, Puymirat J, Mathieu J

Abstract excerpt

Myotonic dystrophy (DM1) is caused by an unstable CTG repeat expansion. Despite the evidence of birth order effect in congenital DM1, the expansion's dynamics among sibships is still unknown. The objective of this study was to determine phenotype and CTG repeat size variability in DM1 sibships, and to investigate their predictive values. We compared 86 sib pairs for CTG repeat, 61 for age at onset and 89 for DM1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12220437
DOI: 10.1034/j.1399-0004.2002.620306.x

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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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