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Article

Diaphragmatic dysfunction in SEPN1-related myopathy.

Neuromuscular disorders : NMD - 1 Aug 2017

Caggiano Serena, Khirani Sonia, Dabaj Ivana, Cavassa Eliana, Amaddeo Alessandro, Arroyo Jorge Olmo, Desguerre Isabelle, Richard Pascale, Cutrera Renato, Ferreiro Ana, Estournet Brigitte, Quijano-Roy Susana, Fauroux Brigitte

Abstract excerpt

SEPN1-related myopathy (SEPN1-RM) is characterized by predominant axial muscle weakness, early scoliosis, rigid spine and severe respiratory insufficiency. The aim of the study was to characterize the mechanisms of respiratory dysfunction in SEPN1-RM patients. Breathing pattern and respiratory muscle strength were measured by means of esophageal (Pes) and gastric (Pgas) pressures. Seven patients aged 7-55 years...

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PMID: 28606403
DOI: 10.1016/j.nmd.2017.04.010

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