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Article

Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos.

European journal of human genetics : EJHG - 1 Mar 2006

Dean Nicola L, Loredo-Osti J Concepción, Fujiwara T Mary, Morgan Kenneth, Tan Seang Lin, Naumova Anna K, Ao Asangla

Abstract excerpt

One form of myotonic dystrophy, dystrophia myotonica 1 (DM1), is caused by the expansion of a (CTG)(n) repeat within the dystrophia myotonica-protein kinase (DMPK) gene located in chromosome region 19q13.3. Unaffected individuals carry alleles with repeat size (CTG)(5-37), premutation carriers (CTG)(38-49) and DM1 affected individuals (CTG)(50-6,000). Preferential transmission both of expanded repeats from...

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Source

Identifiers

PMID: 16391559
DOI: 10.1038/sj.ejhg.5201559

Genes

DMPK
TRD

Provenance

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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Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos.PMID 16391559Read ↗

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