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Article

Diaphragmatic dysfunction in Collagen VI myopathies.

Neuromuscular disorders : NMD - 1 Feb 2014

Quijano-Roy S, Khirani S, Colella M, Ramirez A, Aloui S, Wehbi S, de Becdelievre A, Carlier R Y, Allamand V, Richard P, Azzi V, Estournet B, Fauroux B

Abstract excerpt

Collagen VI-related myopathies are hereditary disorders causing progressive restrictive respiratory insufficiency. Specific diaphragm involvement has been suggested by a drop in supine volumes. This pilot study aimed at characterizing the respiratory muscle phenotype in patients with COL6A1-3 genes mutations. Lung function, blood gases, muscle strength and respiratory mechanics were measured in 7 patients between...

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Identifiers

PMID: 24314752
DOI: 10.1016/j.nmd.2013.11.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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