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Article

Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy.

Disease models & mechanisms - 1 May 2011

Machuca-Tzili Laura E, Buxton Sarah, Thorpe Aaran, Timson Cathy M, Wigmore Peter, Luther Pradeep K, Brook J David

Abstract excerpt

Myotonic dystrophy (DM; also known as dystrophia myotonica) is an autosomal dominant disorder that affects the heart, eyes, brain and endocrine system, but the predominant symptoms are neuromuscular, with progressive muscle weakness and wasting. DM presents in two forms, DM1 and DM2, both of which are caused by nucleotide repeat expansions: CTG in the DMPK gene for DM1 and CCTG in ZNF9 (CNBP) for DM2. Previous...

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Source

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Identifiers

PMID: 21303839
DOI: 10.1242/dmm.004150
PMCID: PMC3097459

Genes

MBNL2
CNBP
DMPK
MBNL1
MBNL3

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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