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Article

Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study.

Neurology - 6 Sept 2016

Steele Hannah E, Harris Elizabeth, Barresi Rita, Marsh Julie, Beattie Anna, Bourke John P, Straub Volker, Chinnery Patrick F

Abstract excerpt

OBJECTIVE: To assess whether hereditary myopathy with early respiratory failure (HMERF) due to the c.951434T>C; (p.Cys31712Arg) TTN missense mutation also includes a cardiac phenotype. METHOD: Clinical cohort study of our HMERF cohort using ECG, 2D echocardiogram, and cross-sectional cardiac imaging with MRI or CT. RESULTS: We studied 22 participants with the c.951434T>C; (p.Cys31712Arg) TTN missense mutation....

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Identifiers

PMID: 27511179
DOI: 10.1212/WNL.0000000000003064
PMCID: PMC5027812

Genes

TTN

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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