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Diaphragmatic dysfunction in Collagen VI myopathies

Abstract 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...

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Published in:Neuromuscular disorders : NMD 2014-02, Vol.24 (2), p.125-133
Main Authors: 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
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Language:English
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Summary:Abstract 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 2002 and 2012. Patients were classified as Early-Severe ( n = 3), Moderate-Progressive ( n = 2) and Mild ( n = 2) according to clinical disease presentation. Seven patients (aged 6–28) were evaluated. Forced vital capacity distinguished the Mild group (>60% predicted) from the two other groups (
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2013.11.002