Table 2 Biochemical and molecular data of previously published LS series
References | No of reported patients | age at onset (median age) | No of patients with available biochemical data | No of patients with molecular diagnosis | Most common biochemical profile | Most common molecular diagnosis |
|---|---|---|---|---|---|---|
[17] | 75 | 4 ys 6 ms | 64 | 23 | Complex I deficiency | MT-ND5 |
[18] | 130 | 7 m | 110 | 77 | Complex I deficiency | MT-ATP6 |
[19] | 17 | n.a. | 17 | 17 | Complex V deficiency | MT-ATP6 |
[20] | 39 | 2 ys 4 ms | 32 | 11 | Complex I deficiency | MT-ND3 |
[21] | 106 | 9 ms | 75 | 41 | Complex I deficiency | MT-ATP6 |
[23] | 96 | 5 ms (nDNA), 11 ms (mtDNA) | 74 | 96 | Complex I deficiency | MT-ATP6 and SLC19A3 |
[24] | 64 (of which 37 from Lee et al. 2016) | n.a. | n.a. | 41 | n.a. | MT-ATP6 |
[25] | 166 (of which 106 from Ogawa et al. 2017) | n.a. | 153 | 103 | Normal | MT-ATP6 |
[22] | 110 | 9 ms | 92 | 25 | Complex I deficiency | MT-ATP6 = MT-ND5 = MT-ND3 |
This report | 122 | 3 ms | 121 | 110 | Complex IV deficiency | SURF1 |