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Article

Recessive TMOD1 mutation causes childhood cardiomyopathy.

Communications biology - 2 Jan 2024

Vasilescu Catalina, Colpan Mert, Ojala Tiina H, Manninen Tuula, Mutka Aino, Ylänen Kaisa, Rahkonen Otto, Poutanen Tuija, Martelius Laura, Kumari Reena, Hinterding Helena, Brilhante Virginia, Ojanen Simo, Lappalainen Pekka, Koskenvuo Juha, Carroll Christopher J, Fowler Velia M, Gregorio Carol C, Suomalainen Anu

Abstract excerpt

Familial cardiomyopathy in pediatric stages is a poorly understood presentation of heart disease in children that is attributed to pathogenic mutations. Through exome sequencing, we report a homozygous variant in tropomodulin 1 (TMOD1; c.565C>T, p.R189W) in three individuals from two unrelated families with childhood-onset dilated and restrictive cardiomyopathy. To decipher the mechanism of pathogenicity of the...

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Identifiers

PMID: 38168645
DOI: 10.1038/s42003-023-05670-9
PMCID: PMC10761686

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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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