Table 2.
Salient features in biochemical, muscle MR imaging and histopathology
| Parameters | P1 (ETFDH) | P2 (ETFDH) | P3 (ETFDH) | P4 (ETFDH) | P5 (ETFDH) | P6 (CPT2) | P7 (CPT2) | P8 (CPT2) | P9 (FLAD1) | P10 (ACADVL) | P11 (PNPLA2) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CK (IU/L) | 1079 | 1394 | 195 | 1233 | 1385 | 873 | 449 | 2559 | 2691 | 144 | 772 |
| MRI T1 - Fatty infiltration (grade) | |||||||||||
| Gluteus maximus | 1 | - | - | 1 | - | - | 1 | - | 2a | - | - |
| Quadriceps | 0 | - | - | 1 | - | - | 2a | - | 2a | - | - |
| Hamstrings | 0 | - | - | 0 | - | - | 2b | - | 2a | - | - |
| Adductors | 0 | - | - | 0 | - | - | 2a | - | 2a | - | - |
| Anterior leg | 0 | - | - | 0 | - | - | 0 | - | 2a | - | - |
| Posterior leg | 0 | - | - | 1 | - | - | 1 | - | 2a | - | - |
| STIR -Myo-edema | |||||||||||
| Gluteus Maximus | 0 | - | - | 0 | - | - | 0 | - | 2a | - | - |
| Quadriceps | 0 | - | - | 0 | - | - | 2b | - | 0 | - | - |
| Hamstrings | 0 | - | - | 0 | - | - | 2b | - | 0 | - | - |
| Adductors | 0 | - | - | 0 | - | - | 2a | - | 0 | - | - |
| Anterior leg | 0 | - | - | 0 | - | - | 0 | - | 0 | - | - |
| Posterior leg | 0 | - | - | 3 | - | - | 1 | - | 0 | - | - |
| TMS | Short and medium chain acyl carnitine elevated | NA | Increase in long chain acyl carnitines | Normal | NA | Normal | Normal | Normal | Short, medium and long chain acyl carnitine elevated | Tetradocenoyl carnitine elevated | Normal |
| Muscle biopsy | |||||||||||
| Fibre size variation | Yes | NA | Yes | NA | - | Yes | Yes | NA | - | No abnormality | - |
| Positive Oil Red ‘O’staining | - | NA | Yes | NA | Yes | - | Yes | NA | Yes | - | Yes |
- Means absent or normal, NA means not available