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Article

Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.

European journal of human genetics : EJHG - 1 May 2018

Moreno Carolina Araujo, Sobreira Nara, Pugh Elizabeth, Zhang Peng, Steel Gary, Torres Fábio Rossi, Cavalcanti Denise Pontes

Abstract excerpt

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a severe disease characterized by functional obstruction in the urinary and gastrointestinal tract. The molecular basis of this condition started to be defined recently, and the genes related to the syndrome (ACTG2-heterozygous variant in sporadic cases; and MYH11 (myosin heavy chain 11), LMOD1 (leiomodin 1) and MYLK (myosin light chain (MLC)...

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Source

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Identifiers

PMID: 29453416
DOI: 10.1038/s41431-017-0055-5
PMCID: PMC5945668

Genes

MYL9
ACTG2
LMOD1
MYH11
MYLK

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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Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.PMID 29453416Read ↗

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