SpirometryFVC (L)1.1 [1.0-2.3]*

Significant difference in comparison to patients with childhood-onset NM with slowness. NM, nemaline myopathy. HMV, home mechanical ventilation. FVC, forced vital capacity. VC, vital capacity. FEV1, forced expiratory volume in first second. PCF, peak cough flow. MIP, maximal inspiratory pressure. MEP, maximal expiratory pressure. SNIP, sniff nasal inspiratory pressure. DTEE, end-expiratory diaphragm thickness. DTEI, maximal end-inspiratory diaphragm thickness. DTEI-DTEE, absolute change in diaphragm thickness. DTR, thickening ratio diaphragm. ITEE, end-expiratory intercostal muscle thickness. Pmo,tw, twitch mouth pressure. IQR, interquartile range.

2.3 [1.8-2.9]3.0 [2.8-3.5]2.7 [2.2-3.2]<0.01FVC(% predicted)32.0 [29.0-58.5]*

Significant difference in comparison to patients with childhood-onset NM with slowness. NM, nemaline myopathy. HMV, home mechanical ventilation. FVC, forced vital capacity. VC, vital capacity. FEV1, forced expiratory volume in first second. PCF, peak cough flow. MIP, maximal inspiratory pressure. MEP, maximal expiratory pressure. SNIP, sniff nasal inspiratory pressure. DTEE, end-expiratory diaphragm thickness. DTEI, maximal end-inspiratory diaphragm thickness. DTEI-DTEE, absolute change in diaphragm thickness. DTR, thickening ratio diaphragm. ITEE, end-expiratory intercostal muscle thickness. Pmo,tw, twitch mouth pressure. IQR, interquartile range.

69.5 [46.3-82.5]81.0 [75.0-87.0]76.5 [53.3-83.5]<0.01VC (L)1.1 [0.9-2.2]*

Significant difference in comparison to patients with childhood-onset NM with slowness. NM, nemaline myopathy. HMV, home mechanical ventilation. FVC, forced vital capacity. VC, vital capacity. FEV1, forced expiratory volume in first second. PCF, peak cough flow. MIP, maximal inspiratory pressure. MEP, maximal expiratory pressure. SNIP, sniff nasal inspiratory pressure. DTEE, end-expiratory diaphragm thickness. DTEI, maximal end-inspiratory diaphragm thickness. DTEI-DTEE, absolute change in diaphragm thickness. DTR, thickening ratio diaphragm. ITEE, end-expiratory intercostal muscle thickness. Pmo,tw, twitch mouth pressure. IQR, interquartile range.

2.2 [1.7-2.9]3.0 [2.8-3.6]2.8 [2.0-3.3]<0.01Change VC upright and supine (%)-9.0 [-18.8- -1.3]-2.0 [-10.8- -0.5]-6.0 [-9.0- -2.0]-5.0 [-10.0- -1.5]nsFEV1/FVC90.0 [82.0-95.0]80.5 [72.5-88.8]80.0 [78.0-88.0]82.5 [77.8-90.0]nsPCF (L/min)179.5 [101.3-307.3]*

Significant difference in comparison to patients with childhood-onset NM with slowness. NM, nemaline myopathy. HMV, home mechanical ventilation. FVC, forced vital capacity. VC, vital capacity. FEV1, forced expiratory volume in first second. PCF, peak cough flow. MIP, maximal inspiratory pressure. MEP, maximal expiratory pressure. SNIP, sniff nasal inspiratory pressure. DTEE, end-expiratory diaphragm thickness. DTEI, maximal end-inspiratory diaphragm thickness. DTEI-DTEE, absolute change in diaphragm thickness. DTR, thickening ratio diaphragm. ITEE, end-expiratory intercostal muscle thickness. Pmo,tw, twitch mouth pressure. IQR, interquartile range.

324.5 [217.5-428.8]380.0 [324.0-439.0]352.0 [228.5-418.0]0.01Respiratory muscle testingMIP (cmH2O)35.0 [24.0-55.0]*

Significant difference in comparison to patients with childhood-onset NM with slowness. NM, nemaline myopathy. HMV, home mechanical ventilation. FVC, forced vital capacity. VC, vital capacity. FEV1, forced expiratory volume in first second. PCF, peak cough flow. MIP, maximal inspiratory pressure. MEP, maximal expiratory pressure. SNIP, sniff nasal inspiratory pressure. DTEE, end-expiratory diaphragm thickness. DTEI, maximal end-inspiratory diaphragm thickness. DTEI-DTEE, absolute change in diaphragm thickness. DTR, thickening ratio diaphragm. ITEE, end-expiratory intercostal muscle thickness. Pmo,tw, twitch mouth pressure. IQR, interquartile range.

68.0 [35.0-92.0]81.0 [65.0-102.5]72.0 [37.5-94.0]<0.01MIP(% predicted)50.0 [32.0-77.0]*

Significant difference in comparison to patients with childhood-onset NM with slowness. NM, nemaline myopathy. HMV, home mechanical ventilation. FVC, forced vital capacity. VC, vital capacity. FEV1, forced expiratory volume in first second. PCF, peak cough flow. MIP, maximal inspiratory pressure. MEP, maximal expiratory pressure. SNIP, sniff nasal inspiratory pressure. DTEE, end-expiratory diaphragm thickness. DTEI, maximal end-inspiratory diaphragm thickness. DTEI-DTEE, absolute change in diaphragm thickness. DTR, thickening ratio diaphragm. ITEE, end-expiratory intercostal muscle thickness. Pmo,tw, twitch mouth pressure. IQR, interquartile range.

103.0 [42.0-122.0]102.0 [84.3-127.0]90.5 [49.8-116.5]<0.01MEP (cmH2O)36.0 [26.0-63.0]*

Significant difference in comparison to patients with childhood-onset NM with slowness. NM, nemaline myopathy. HMV, home mechanical ventilation. FVC, forced vital capacity. VC, vital capacity. FEV1, forced expiratory volume in first second. PCF, peak cough flow. MIP, maximal inspiratory pressure. MEP, maximal expiratory pressure. SNIP, sniff nasal inspiratory pressure. DTEE, end-expiratory diaphragm thickness. DTEI, maximal end-inspiratory diaphragm thickness. DTEI-DTEE, absolute change in diaphragm thickness. DTR, thickening ratio diaphragm. ITEE, end-expiratory intercostal muscle thickness. Pmo,tw, twitch mouth pressure. IQR, interquartile range.

80.0 [63.0-123.0]111.5 [84.0-131.5]86.5 [42.8-120.0]<0.01MEP(% predicted)35.0 [28.0-46.0]*

Significant difference in comparison to patients with childhood-onset NM with slowness. NM, nemaline myopathy. HMV, home mechanical ventilation. FVC, forced vital capacity. VC, vital capacity. FEV1, forced expiratory volume in first second. PCF, peak cough flow. MIP, maximal inspiratory pressure. MEP, maximal expiratory pressure. SNIP, sniff nasal inspiratory pressure. DTEE, end-expiratory diaphragm thickness. DTEI, maximal end-inspiratory diaphragm thickness. DTEI-DTEE, absolute change in diaphragm thickness. DTR, thickening ratio diaphragm. ITEE, end-expiratory intercostal muscle thickness. Pmo,tw, twitch mouth pressure. IQR, interquartile range.

79.0 [42.0-135.0]105.0 [87.8-122.0]88.5 [42.0-115.0]<0.01SNIP(cmH2O)34.5 [18.8-60.3]*

Significant difference in comparison to patients with childhood-onset NM with slowness. NM, nemaline myopathy. HMV, home mechanical ventilation. FVC, forced vital capacity. VC, vital capacity. FEV1, forced expiratory volume in first second. PCF, peak cough flow. MIP, maximal inspiratory pressure. MEP, maximal expiratory pressure. SNIP, sniff nasal inspiratory pressure. DTEE, end-expiratory diaphragm thickness. DTEI, maximal end-inspiratory diaphragm thickness. DTEI-DTEE, absolute change in diaphragm thickness. DTR, thickening ratio diaphragm. ITEE, end-expiratory intercostal muscle thickness. Pmo,tw, twitch mouth pressure. IQR, interquartile range.

55.0 [50.0-83.0]76.0 [61.8-82.0]68.0 [48.5-79.5]<0.01SNIP(% predicted)36.0 [19.5-63.5]*

Significant difference in comparison to patients with childhood-onset NM with slowness. NM, nemaline myopathy. HMV, home mechanical ventilation. FVC, forced vital capacity. VC, vital capacity. FEV1, forced expiratory volume in first second. PCF, peak cough flow. MIP, maximal inspiratory pressure. MEP, maximal expiratory pressure. SNIP, sniff nasal inspiratory pressure. DTEE, end-expiratory diaphragm thickness. DTEI, maximal end-inspiratory diaphragm thickness. DTEI-DTEE, absolute change in diaphragm thickness. DTR, thickening ratio diaphragm. ITEE, end-expiratory intercostal muscle thickness. Pmo,tw, twitch mouth pressure. IQR, interquartile range.

59.0 [48.0-102.0]81.0 [72.3-94.5]73.0 [50.5-90.0]<0.01Diaphragm ultrasoundDTEE (mm)1.4 [1.1-1.7]1.4 [1.0-2.7]1.4 [1.1-1.7]1.4 [1.1-1.7]nsDTEI (mm)2.4 [1.5-2.8]3.5 [1.8-5.8]2.2 [1.9-3.6]2.3 [1.8-3.7]nsDTEI - DTEE (mm)DTR0.7 [0.2-1.3]1.5 [1.2-1.9]1.8 [0.8-3.2]2.1 [1.6-2.6]0.9 [0.7-1.7]1.7 [1.5-2.1]1.0 [0.6-1.8]1.7 [1.5-2.1]nsnsEchogenicity(z-scores)2.4 [1.5-3.0]0.6 [-0.2-1.9]1.2 [0.0-1.9]1.4 [0.0-2.3]nsIntercostal muscle ultrasoundITEE (mm)2.0 [1.8-2.2]2.5 [1.7-3.4]2.0 [1.7-2.6]2.0 [1.8-2.6]nsEchogenicity(z-scores)1.4 [0.8-2.6]0.8 [-0.7-2.1]1.6 [0.9-2.2]1.4 [0.6-2.1]nsPmo,tw (cmH2O)-8.7 [-12.2- -4.7]*

Significant difference in comparison to patients with childhood-onset NM with slowness. NM, nemaline myopathy. HMV, home mechanical ventilation. FVC, forced vital capacity. VC, vital capacity. FEV1, forced expiratory volume in first second. PCF, peak cough flow. MIP, maximal inspiratory pressure. MEP, maximal expiratory pressure. SNIP, sniff nasal inspiratory pressure. DTEE, end-expiratory diaphragm thickness. DTEI, maximal end-inspiratory diaphragm thickness. DTEI-DTEE, absolute change in diaphragm thickness. DTR, thickening ratio diaphragm. ITEE, end-expiratory intercostal muscle thickness. Pmo,tw, twitch mouth pressure. IQR, interquartile range.

-10.0 [-10.1- -9.3]-15.2 [-19.3- -10.9]-13.6 [-17.8- -8.8]0.02