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Article

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.

European journal of human genetics : EJHG - 1 Dec 2015

Klar Joakim, Raykova Doroteya, Gustafson Elisabet, Tóthová Iveta, Ameur Adam, Wanders Alkwin, Dahl Niklas

Abstract excerpt

Familial visceral myopathy (FVM) is a rare heritable and heterogeneous condition due to impaired smooth muscle function. We identified a family segregating 11 individuals with a spectrum of visceral symptoms involving the small intestine, colon, biliary tract, urinary tract and uterus. Whole-exome sequencing revealed a novel heterozygous tandem base substitution c.806_807delinsAA (p.(Gly269Glu)) in ACTG2,...

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Source

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Identifiers

PMID: 25782675
DOI: 10.1038/ejhg.2015.49
PMCID: PMC4795199

Genes

ACTG2

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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