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Article

The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders.

Journal of pediatric gastroenterology and nutrition - 1 May 2022

Sandy Natascha S, Huysentruyt Koen, Mulder Daniel J, Warner Neil, Chong Karen, Morel Chantal, AlQahtani Saleh, Wales Paul W, Martin Martin G, Muise Aleixo M, Avitzur Yaron

Abstract excerpt

BACKGROUND AND AIMS: The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms of intestinal dysmotility disorders. we aimed to describe the diverse phenotype of this newly reported and rare disease. METHODS: Report of 4 new patients, and a systematic review of ACTG2-related disorders. we analyzed the...

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Abnormalities, Multiple
Actins
Colon
Intestinal Pseudo-Obstruction
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Urinary Bladder

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Identifiers

PMID: 35149643
DOI: 10.1097/MPG.0000000000003400
PMCID: PMC9632465

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