Intestinal Pathology in Patients With Pathogenic ACTG2 -Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature.

Raj P Kapur,Allan M Goldstein,Deborah S Loeff,Candace T Myers,Cate R Paschal

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society（2022）

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摘要

Apart from hyalinized inclusions, which were only observed in 3/16 patients, intestinal pathology in the majority of patients with variants is not indicative of an underlying visceral myopathy. Molecular testing should be considered even when no diagnostic intestinal pathology is identified.

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关键词

ACTG2,megacystis microcolon hypoperistalsis syndrome,pseudo-obstruction,smooth muscle actin,visceral myopathy

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