Diaphragmatic dysfunction in Collagen VI myopathies
Quijano-Roy S, Khirani S, Colella M, Ramirez A, Aloui S, Wehbi S, de Becdelievre A, Carlier RY, Allamand V, Richard P, Azzi V, Estournet B, Fauroux B.
Neuromuscul Disord. 2014. 24(2):125-33.
A pilot study aimed at characterizing the respiratory muscle phenotype in patients with COL6 genes mutations. Lung function, blood gases, muscle strength and respiratory mechanics were measured in 7 patients between 2002 and 2012. Forced vital capacity distinguished the Mild group (>60% predicted) from the two other groups (<50% predicted). This distinction was also possible using the MFM. Diaphragmatic dysfunction at rest was observed in all the Early-Severe and Moderate-Progressive patients.
Keywords: Bethlem myopathy, COLVI-related myopathy, Diaphragm, Motor function measure scale, Respiratory function, Ullrich congenital muscular dystrophy, Whole body muscle magnetic resonance imaging
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