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Article

Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.

Neuromuscular disorders : NMD - 1 May 2014

Hedberg Carola, Toledo Alejandro Gomez, Gustafsson Claes M, Larson Göran, Oldfors Anders, Macao Bertil

Abstract excerpt

Hereditary myopathy with early respiratory failure is a rare disease with muscle weakness and respiratory failure as early symptoms. Muscle pathology is characterized by the presence of multiple cytoplasmic bodies and other protein aggregates in muscle fibers. The disease is associated with mutations in the titin gene (TTN). All patients harbor mutations located in exon 343 in the TTN gene that codes for the...

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Identifiers

PMID: 24636144
DOI: 10.1016/j.nmd.2014.02.003

Genes

TTN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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