Table 1.
A list of patients and control subjects assayed by the Bionano Saphyr platform in the current study. More detailed description of results can be found in online supplementary table 1
| ID | Sex | Age (years) | Onset (years) | Family history | CK (U/L) | EMG | Southern blot (4q35) | Optical mapping (Nb.BssSI enzyme, 4q35) | Optical mapping (Nt.BspQI enzyme, 4q35) | |||||||
| Length (kb） | Units | Allele | Units | Allele | Read count | Units | Allele | Read count | ||||||||
| Patient cohort 1 | P01 | F | 37 | 28 | + | 104 | Mild myopathic change | ~20 | ~4 | 4qA | 4 | 4qA | 6 | 4.3±0.3 | 4qA | 38 |
| ~38 | >10 | 4qB | 22 | 4qB | 5 | 22.4±0.2 | 4qB | 23 | ||||||||
| P02 | F | 18 | 12 | + | 379 | Myopathic change | ~18 | ~3 | 4qA | 3 | 4qA | 25 | – | – | – | |
| ~98 | ~28 | 4qA | 28 | 4qA | 10 | |||||||||||
| P03 | F | 43 | 30 | + | 110 | Mild myopathic change | ~18 | ~3 | 4qA | 3 | 4qA | 27 | – | – | – | |
| ~38 | ＞10 | 4qA | 11 | 4qA | 34 | |||||||||||
| P04 | M | 27 | 11 | – | 1406 | Myopathic change | ~16 | ~3 | 4qA | 3 | 4qA | 18 | – | – | – | |
| ~61 | ~17 | 4qB | 19 | 4qB | 42 | |||||||||||
| ~76 | ~21 | 4qA | 23 | 4qA | 30 | |||||||||||
| P05 | F | 41 | 31 | + | 95 | Normal | ~12 | ~2 | 4qA | 2 | 4qA | 12 | – | – | – | |
| ~38 | ~10 | 4qA | 11 | 4qA | 18 | |||||||||||
| >38 | ＞10 | 4qA | 17 | 4qA | 60 | |||||||||||
| Patient cohort 2 | P06 | F | 14 | 6 | – | 406 | Myopathic change | – | – | – | 2 | 4qA | 3 | 2.2±0.3 | 4qA | 32 |
| 15 | 4qB | 4 | 15.0±0.2 | 4qB | 36 | |||||||||||
| 27 | 4qA | 3 | 27.2±0.4 | 4qA | 5 | |||||||||||
| P07 | M | 23 | 18 | – | 871 | Myopathic change | – | – | – | 4 | 4qA | 6 | – | – | – | |
| – | – | – | 20 | 4qA | 11 | |||||||||||
| P08 | M | 18 | 13 | – | 538 | Myopathic change | ~21.5 | ~5 | 4qA | 5 | 4qA | 6 | – | – | – | |
| >63.5 | >17 | 4qA | 25 | 4qA | 9 | |||||||||||
| P09 | F | 33 | 19 | – | 269 | Mild myopathic change | ~21.5 | ~5 | 4qA | 5 | 4qA | 33 | – | – | – | |
| >63.5 | >17 | 4qA | 18 | 4qA | 26 | |||||||||||
| P10 | F | 39 | 28 | – | 176 | Myopathic change | ~15 | ~3 | 4qA | 3 | 4qA | 17 | – | – | – | |
| >63.5 | >17 | 4qA | 28 | 4qA | 8 | |||||||||||
| P11 | M | 20 | 14 | + | 379 | Myopathic change | ~15 | ~3 | 4qA | 3 | 4qA | 16 | – | – | – | |
| >63.5 | >17 | 4qA | 32 | 4qA | 12 | |||||||||||
| P12 | F | 15 | 10 | – | 514 | No data | ~12 | ~2 | 4qA | 2 | 4qA | 10 | – | – | – | |
| ~48.5 | 15 | 4qA | 16 | 4qA | 18 | |||||||||||
| P13 | F | 53 | 32 | + | 341 | Myopathic change | ~18.5 | ~4 | 4qA | 4 | 4qA | 18 | – | – | – | |
| >63.5 | >17 | 4qB | 18 | 4qB | 18 | |||||||||||
| Control | C01 | F | – | – | – | – | – | – | – | – | 19 | 4qB | 8 | 18.8±0.3 | 4qB | 22 |
| 47 | 4qA | 10 | 46.5±0.5 | 4qA | 13 | |||||||||||
| C02 | M | – | – | – | – | – | – | – | – | 18 | 4qA | 8 | 18.6±0.3 | 4qA | 7 | |
| 20 | 4qA | 9 | 20.5±0.1 | 4qA | 8 | |||||||||||
| C03 | M | – | – | – | – | – | – | – | – | 13 | 4qB | 4 | 12.7±0.5 | 4qB | 20 | |
| 22 | 4qB | 4 | 22.2±0.4 | 4qB | 22 | |||||||||||
More detailed description of results can be found in online supplementary table 1.
CK, creatine kinase; EMG, electromyography; F, female; M, male.