Nemaline myopathy: clinical and respiratory characterisation

Cross-sectional study on 42 patients with nemaline myopathy. We conducted a clinical characterisation with a special focus on respiratory muscle function. We included patients with respiratory muscle weakness in a inspiratory muscle training pilot study.

本研究为针对42例杆状体肌病（nemaline myopathy）患者的横断面研究。我们对患者开展临床特征分析，并重点关注呼吸肌功能。我们将合并呼吸肌无力的患者纳入一项吸气肌训练预试验（inspiratory muscle training pilot study）。