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Article

Identification of MYLK3 mutations in familial dilated cardiomyopathy.

Scientific reports - 13 Dec 2017

Tobita Takashige, Nomura Seitaro, Morita Hiroyuki, Ko Toshiyuki, Fujita Takanori, Toko Haruhiro, Uto Kenta, Hagiwara Nobuhisa, Aburatani Hiroyuki, Komuro Issei

Abstract excerpt

Dilated cardiomyopathy (DCM) is a primary cause of heart failure, life-threatening arrhythmias, and cardiac death. Pathogenic mutations have been identified at the loci of more than 50 genes in approximately 50% of DCM cases, while the etiologies of the remainder have yet to be determined. In this study, we applied whole exome sequencing in combination with segregation analysis to one pedigree with familial DCM,...

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Identifiers

PMID: 29235529
DOI: 10.1038/s41598-017-17769-1
PMCID: PMC5727479

Genes

MYLK3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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