Recessive TMOD1 mutation causes childhood cardiomyopathy

Recessive TMOD1 mutation causes childhood cardiomyopathy

Abstract 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 unr...

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Bibliographic Details
Main Authors: Catalina Vasilescu, Mert Colpan, Tiina H. Ojala, Tuula Manninen, Aino Mutka, Kaisa Ylänen, Otto Rahkonen, Tuija Poutanen, Laura Martelius, Reena Kumari, Helena Hinterding, Virginia Brilhante, Simo Ojanen, Pekka Lappalainen, Juha Koskenvuo, Christopher J. Carroll, Velia M. Fowler, Carol C. Gregorio, Anu Suomalainen
Format: Article
Language:English
Published: Nature Portfolio 2024-01-01
Series:Communications Biology
Online Access:https://doi.org/10.1038/s42003-023-05670-9

Internet

https://doi.org/10.1038/s42003-023-05670-9

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