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Article

Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study.

Journal of medical genetics - 21 Mar 2024

Meyer Alayne P, Barnett Cara L, Myers Katherine, Siskind Carly E, Moscarello Tia, Logan Rachel, Roggenbuck Jennifer, Rich Kelly A

Abstract excerpt

BACKGROUND: Pathogenic variants in TTN cause a spectrum of autosomal dominant and recessive cardiovascular, skeletal muscle and cardioskeletal disease with symptom onset across the lifespan. The aim of this study was to characterise the genotypes and phenotypes in a cohort of TTN+paediatric patients. METHODS: Retrospective chart review was performed at four academic medical centres. Patients with pathogenic or...

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Source

Identifiers

PMID: 38050027
DOI: 10.1136/jmg-2023-109513

Genes

TTN

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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