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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 |
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Main Authors: | , , , , , , , , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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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 ( |
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ISSN: | 0960-8966 1873-2364 |
DOI: | 10.1016/j.nmd.2013.11.002 |