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Case report reveals isolated uterine atony in a patient with a pathogenic ACTG2 variant, indicating an expanded phenotypic spectrum for visceral myopathy.
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.
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Slater et al. (2026) studied this question.
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