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Article

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.

BMC medical genetics - 1 Sept 2016

Hannuksela Matias, Stattin Eva-Lena, Klar Joakim, Ameur Adam, Johansson Bengt, Sörensen Karen, Carlberg Bo

Abstract excerpt

BACKGROUND: Mutations in MYLK cause non-syndromic familial thoracic aortic aneurysms and dissections (FTAAD). Very little is known about the phenotype of affected families. We sought to characterize the aortic disease and the presence of other vascular abnormalities in FTAAD caused by a deletion in MYLK and to compare thoracic aortic diameter and stiffness in mutation carriers and non-carriers. METHODS: We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Calcium-Binding Proteins

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Share to Myosin-Light-Chain Kinase

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Source

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Identifiers

PMID: 27586135
DOI: 10.1186/s12881-016-0326-y
PMCID: PMC5008005

Genes

MYLK

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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