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Article

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.

European journal of human genetics : EJHG - 1 Oct 2016

Larsen Mirjam, Kress Wolfram, Schoser Benedikt, Hehr Ute, Müller Clemens R, Rost Simone

Abstract excerpt

The myotonic dystrophies (DMs) are the most common inherited muscular disorders in adults. In most of the cases, the disease is caused by (CTG)n/(CCTG)n repeat expansions (EXPs) in non-coding regions of the genes DMPK (dystrophia myotonica-protein kinase) and CNBP (CCHC-type zinc-finger nucleic acid-binding protein). The EXP is transcribed into mutant RNAs, which provoke a common pathomechanism that is...

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Share to Gene Deletion
Share to Heterozygote
Share to Leukocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Mutation, Missense

Share to Myotonic Dystrophy

Share to RNA-Binding Proteins

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Source

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Identifiers

PMID: 27222292
DOI: 10.1038/ejhg.2016.41
PMCID: PMC5027686

Genes

MBNL1
CNBP
DMPK
CELF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

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Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.PMID 27222292Read ↗

An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type ISemantic proximity Read ↗

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Gene Expression Analysis in Myotonic Dystrophy: Indications for a Common Molecular Pathogenic Pathway in DM1 and DM2Semantic proximity Read ↗

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