Associated Papers
Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy.
Ceron RH et al.
Science Advances, 2024
Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.
Geraghty RM et al.
Journal of Rare Diseases (berlin, Germany), 2023
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Assia Batzir N et al.
Human Mutation, 2020
Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature.
Kapur RP et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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