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Article

A rare form of LIM domain-binding protein 3 (LDB3) mutation causes hypertrophic cardiomyopathy and myofibrillar myopathy type 4.

Clinical genetics - 1 Nov 2024

Svaguša Tomo, Sedlić Filip, Županić Sven, Manola Šime, Bakoš Matija, Mirošević Vid, Livun Ana

Abstract excerpt

Polymorphisms in LDB3 gene can cause various forms of cardiomyopathy and myofibrillar myopathy 4 (MM4). Patient described in this study presented with a hypertrophic cardiomyopathy (HCM) and distal myopathy suggestive of myofibrillar myopathy 4. Genetic analysis using the TruSight Cardio Sequencing Kit (Illumina) revealed suspected LDB3 variant (c.1435G>A, p.(Gly479Arg)). This is the first case in which...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to LIM Domain Proteins

Share to Mutation

Share to Myopathies, Structural, Congenital

Source

Identifiers

PMID: 38992921
DOI: 10.1111/cge.14585

Genes

LDB3

Variants

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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