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Article

Titin related myopathy with ophthalmoplegia. A novel phenotype.

Neuromuscular disorders : NMD - 1 Jul 2023

Alawneh Issa, Yuki Kyoko E, Amburgey Kimberly, Yoon Grace, Dowling James J, Hazrati Lili-Naz, Gonorazky Hernan

Abstract excerpt

Titin-related myopathy is an emerging genetic neuromuscular disorder with a wide spectrum of clinical phenotypes. To date, there have not been reports of patients with this disease that presented with extraocular muscle involvement. Here we discuss a 19-year-old male with congenital weakness, complete ophthalmoplegia, thoracolumbar scoliosis, and obstructive sleep apnea. Muscle magnetic resonance imaging revealed...

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Identifiers

PMID: 37393749
DOI: 10.1016/j.nmd.2023.05.003

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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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