Table 2 Clinical, demographic, laboratory and genetic characteristics of PMM2-CDG patients
From: GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
Patient | Country | Age (years) | Sex | PMM2 mutations | *Transferrin | **AT | Clinical severity | |
|---|---|---|---|---|---|---|---|---|
Asialo | Disialo | |||||||
P1 | Spain | 1 | M | Y64C, R141H | 11.0 | 45.8 | 46 | Severe |
P2 | Spain | 14 | M | R141H, E93A | 10.0 | 32.8 | 35 | Moderate |
P3 | Spain | 6 | F | P113L, T118S+P184D | 23.6 | 44.1 | 22 | Severe |
P4 | Spain | 1 | M | E33X,V44A | 21.5 | 38.2 | 17 | Severe |
P5 | Spain | 4 | F | P113L haploinsuficiency | 13.5 | 33.9 | 53 | Severe |
P6 | Belgium | 13 | M | F119L, R141H | 6.0 | 30.1 | 43 | Moderate |
P7 | Belgium | 1 | M | P113L, T237R | 27.6 | 40.5 | 17 | Moderate |
P8 | Belgium | 8 | M | D188G, V231M | 9.4 | 36.1 | 42 | Moderate |
P9 | Belgium | 35 | F | P113L, R141H | 12.7 | 35.7 | 28 | Mild |
P10 | Belgium | 35 | F | P113L, R141H | 8.7 | 32.6 | 34 | Mild |
P11 | Portugal | 18 | M | R141H, C241S | 8.0 | 25.0 | 48 | Mild |
P12 | Denmark | 12 | M | F119L homozygous | 11.9 | 39.1 | 28 | Moderate |
Control Pool | - | - | - | - | 1.3 | 0.8 | 100 | - |