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Article

A zebrafish model for FHL1-opathy reveals loss-of-function effects of human FHL1 mutations.

Neuromuscular disorders : NMD - 1 Jun 2018

Keßler M, Kieltsch A, Kayvanpour E, Katus H A, Schoser B, Schessl J, Just S, Rottbauer W

Abstract excerpt

Missense mutations in the four and a half LIM domain 1 (FHL1) gene were found to cause X-linked inherited myopathies of both skeletal and heart muscles. However, the mechanisms by which FHL1 mutations impact on FHL1 function and lead to alteration of muscle structure and function have not been deciphered yet. We generated here by Morpholino-modified antisense oligonucleotide-mediated gene knockdown fHL1-deficient...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29735270
DOI: 10.1016/j.nmd.2018.03.001

Genes

FHL1

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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