The First Case of Isolated Uterine Atony as the Only Symptom in an Individual With ACTG2-Associated Visceral Myopathy.

Clinical genetics ·2026-08-20

Slater BA, Muth E, Meeks NJL

摘要

This research letter expands the phenotypic spectrum of ACTG2-associated autosomal dominant visceral myopathy to include isolated uterine involvement based on a case of an individual harboring a known pathogenic ACTG2 variant with uterine atony as her only symptom.

关键词

ACTG2 autosomal dominant visceral myopathy megacystis uterine atony

文献信息

期刊

Clinical genetics

期刊简称

Clin Genet

ISSN

1399-0004

DOI

10.1111/cge.70234

发表日期

2026-08-20

语言

英语

国家/地区

Denmark

NLM ID

0253664

外部链接

PubMed 原文 DOI: 10.1111/cge.70234 查看期刊详情

分析服务

The First Case of Isolated Uterine Atony as the Only Symptom in an Individual With ACTG2-Associated Visceral Myopathy.

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