General characteristics of the studied population
| P | Current age | Sex | Age at disease onset | Genotype | First symptom | Phenotype | Ambulant (yes/no) | Age at NIV initiation (years) | Age at beginning of treatment (years) | Dose of treatment (mg/kg/day) | Duration of treatment* (months) |
| 1 | 32 | F | 20 | Homozygous p.Thr108Met | Muscle weakness | Facial, neck flexion, axial and limb weakness. Respiratory insufficiency. Dysphagia. | yes | 25 | 29 | 300 | 38 |
| 2 | 60 | F | 30 | Homozygous p.Lys202del | Ptosis | Ocular, facial, neck, axial and limb weakness. Respiratory insufficiency. | yes | 59 | 57 | 400 | 39 |
| 3 | 59 | M | 50 | Homozygous p.Lys202del | Respiratory insufficiency | Ptosis, facial, axial and limb weakness. Respiratory insufficiency. | yes | 53 | 55 | 200 | 43 |
| 4 | 31 | F | 14 | Homozygous p.Thr108Met | Muscle weakness | Facial, neck flexion, axial and limb weakness. Respiratory insufficiency. Dysphagia. | yes | 30 | 27 | 400 | 48 |
| 5 | 73 | F | 60 | Homozygous p.Lys202del | Muscle weakness | Facial, neck, axial and limb weakness. Respiratory insufficiency. | yes | 71 | 72 | 400 | 15 |
| 6 | 36 | F | 5 | Homozygous p.Thr108Met | Muscle weakness | Facial, neck flexion, axial and limb weakness. Respiratory insufficiency. | yes | 35 | 35 | 300 | 8 |
*Until the date of data collecting.
F, female; M, male; NIV, non-invasive mechanical ventilation; P, patient.