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Article

Left ventricular hypertrophy caused by a novel nonsense mutation in FHL1.

European journal of medical genetics - 1 May 2013

Gossios Thomas D, Lopes Luis R, Elliott Perry M

Abstract excerpt

Emery Dreifuss muscular dystrophy (EDMD) is a hereditary muscular disorder, characterized by contractures, progressive muscular wasting and cardiac involvement. The majority of EDMD patients harbor mutations in the lamin A/C (LMNA) and emerin (STA) genes. Emerging data implicate mutations in FHL1 (four and a half LIM protein 1) gene, located in chromosome Xq26, in EDMD pathogenesis. FHL1 is mainly expressed in...

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Share to Chromosomes, Human, X
Share to Codon, Nonsense
Share to Death, Sudden, Cardiac

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypertrophy, Left Ventricular

Share to Lamin Type A

Share to LIM Domain Proteins

Share to Muscle Proteins

Share to Muscular Dystrophy, Emery-Dreifuss

Source

Identifiers

PMID: 23500067
DOI: 10.1016/j.ejmg.2013.03.001

Genes

FHL1
LMNA

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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