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Article

Expanding the genotypic spectrum of ACTG2-related visceral myopathy.

Cold Spring Harbor molecular case studies - 1 Jun 2021

James Kiely N, Lau Megan, Shayan Katayoon, Lenberg Jerica, Mardach Rebecca, Ignacio Romeo, Halbach Jonathan, Choi Lillian, Kumar Soma, Ellsworth Katarzyna A

Abstract excerpt

Visceral myopathies (VMs) encompass a spectrum of disorders characterized by chronic disruption of gastrointestinal function, with or without urinary system involvement. Pathogenic missense variation in smooth muscle γ-actin gene (ACTG2) is associated with autosomal dominant VM. Whole-genome sequencing of an infant presenting with chronic intestinal pseudo-obstruction revealed a homozygous 187 bp (c.589_613 +...

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Identifiers

PMID: 33883208
DOI: 10.1101/mcs.a006085
PMCID: PMC8208046

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Expanding the genotypic spectrum of ACTG2-related visceral myopathy.PMID 33883208Read ↗

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