Table 3.
MRI studies in distal myopathies showing similar patterns of lower limb muscular affection as compared to MATR3-myop
| Reference | No. of patients | Whole body MRI | Individual muscles | Scoring system | Gluteal musculature | Paraspinal musculature |
|---|---|---|---|---|---|---|
| TIA1 | ||||||
| Mahjneh (2004) [14] | 11 | N | Y | Y | n.d | n.d |
| Ahlberg (1994) [4] | 6 | N | Y | N | n.d | n.d |
| TTN | ||||||
| Mahjneh (2004) [14] | 22 | N | Y | Y | n.d | n.d |
| MYOT | ||||||
| Berciano (2008) [5] | 8 | N | Y | Y | All glutei involved (min. and med. > max.) | n.d |
| McNeill (2009) [15] | 8 | N | Y | Y | n.d | n.d |
| Olive (2011) [18] | 17 | N | Y | Y | n.d | n.d |
| Fischer (2008) [10] | 12 | N | Y | Y | All glutei involved (min. and med. > max.) | n.d |
| Schramm (2008) [25] | 5 | Y | Y | Y | Glutei involved, no discrimination | Erector spinae involved, no segmental discrimination |
| SQSTM1/TIA1 | ||||||
| Niu (2018) [16] | 3 | n.a | N | N | n.d | n.d |
| Lee (2018) [12] | 9 | N | N | N | Affected in 1 patient, no discrimination | Affected in 1 patient, no discrimination |
| Bucelli (2015) [6] | 1 | N | N | N | n.d | n.d |
| KLHL9 | ||||||
| Cirak (2010) [7] | 1 | N | N | N | n.d | n.d |
| ADSSL1 | ||||||
| Park (2016) [21] | 2 | N | N | N | Not affected | n.d |
| Park (2017) [22] | 3 | Y | N | N | Not affected | Not affected |
No. number, Y yes, N no, n.a. not annotated, n.d. not determined