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Article

Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.

American journal of medical genetics. Part A - 1 Nov 2016

Moreno Carolina Araujo, Metze Konradin, Lomazi Elizete Aparecida, Bertola Débora Romeo, Barbosa Ricardo Henrique Almeida, Cosentino Viviana, Sobreira Nara, Cavalcanti Denise Pontes

Abstract excerpt

Visceral motility dysfunction is a key feature of genetic disorders such as megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS, MIM moved from 249210 to 155310), chronic intestinal pseudo-obstruction (CIPO, MIM609629), and multisystemic smooth muscle dysfunction syndrome (MSMDS, MIM613834). The genetic bases of these conditions recently begun to be clarified with the identification of pathogenic...

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Source

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Identifiers

PMID: 27481187
DOI: 10.1002/ajmg.a.37857
PMCID: PMC5590821

Genes

ACTG2
ACTA2
MYH11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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