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Article

Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.

Muscle & nerve - 1 Jun 2003

Dagvadorj Ayush, Goudeau Bertrand, Hilton-Jones David, Blancato Jan K, Shatunov Alexey, Simon-Casteras Monique, Squier Waney, Nagle James W, Goldfarb Lev G, Vicart Patrick

Abstract excerpt

Mutations in desmin gene have been identified in patients with cardiac and skeletal myopathy characterized by intracytoplasmic accumulation of desmin-reactive deposits and electron-dense granular aggregates. We characterized two new desminopathy families with unusual features of adult-onset, slowly progressive, diffuse skeletal myopathy and respiratory insufficiency. Progressive reduction of respiratory muscle...

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Source

Identifiers

PMID: 12766977
DOI: 10.1002/mus.10370

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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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