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Article

Molecular Diagnosis of Myotonic Dystrophy.

Current protocols in human genetics - 11 Oct 2016

Chakraborty Sujata, Vatta Matteo, Bachinski Linda L, Krahe Ralf, Dlouhy Stephen, Bai Shaochun

Abstract excerpt

Myotonic dystrophy types 1 (DM1) and 2 (DM2) are autosomal dominant, microsatellite repeat expansion disorders that affect muscle function. Myotonic dystrophy type 1 is caused by CTG repeat expansion in the 3' UTR region of the DMPK gene. Patients with DM2 have expansion of CCTG repeats in intron 1 of the CNBP gene. In this unit, we review and discuss the clinical phenotypes, genetic mutations causing the...

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Source

Identifiers

PMID: 27727437
DOI: 10.1002/cphg.22

Genes

CNBP
DMPK

Provenance

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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