Table 4 WES results related to the origin of the qualified material and to the specific inclusion criteria
Subgroups of patients | MD or non-MD genes loci of variants | Diagnostics based on archival material | Current diagnostics | Total |
|---|---|---|---|---|
Disease onset (year) | 1996–2012 | 2013–2014 | 1996–2014 | |
Number of patients | 88 (5.5/year) | 25 (12.5/year) | 113 | |
Period from onset to WES qualification (years) | 2–25 (mean 5.5 ± 5.9 ) | 0 | 0–25 | |
MDC scale (A+B, without C) | 4.2 ± 1.5 (2–8) | 3.6 ± 1.2 (2–6) | 4.1 ± 1.5 | |
Ratio of MD-related/non MD related genes | 3.4 | 1.0 | 2.4 | |
Patients deceased | Total no. | 41 | 8 | 44 % |
MD | 51.2 % (21) | 2 | 47 % (23) | |
non MD | (3) | 2 | (5) | |
Patients with neonatal onset | Total no. | 41 | 6 | 42 % |
MD | 53.7 % (22) | 2 | 51 % (24) | |
non MD | (5) | 2 | (7) | |
Patients with LS or other basal ganglia involvement | Total no. | 21 | 7 | 25 % |
MD | 61.9 % (13) | 3 | 57 % (16) | |
non MD | (2) | 0 | (2) | |
3-methylglutaconic aciduria | Total no. | 13 | 3 | 14 % |
MD | 53.8 % (7) | 2 | 53 % (9) | |
non MD | 0 | 1 | (1) | |
Muscle biopsy | Total no. | 62 | 5 | 67/113 |
MD | 56.4 % (35) | (4) | 58 % (39) | |
non MD | (10) | (0) | (10) | |
Percentage of muscle biopsy | 70 % | 20 % | 59 % | |