TABLE 6.
Clinical features and examinations of previously reported cases with significant GNE mutations
| Mutation | No. | Gender | Onset age (year) | Initial symptom | Muscle weakness | Quadriceps sparing | Numbness | Muscular atrophy | CK level (U/L) | EMG | Muscle biopsy |
|---|---|---|---|---|---|---|---|---|---|---|---|
| c.620>T (p.D207V) | Ia | F | 29 | Muscle weakness of BLL | BLL + IP | + | – | – | 258.0 | M | F + A + D + R |
| Ib | M | 43 | Muscle weakness of AL | UDL + BLL | + | – | UDL + LDL | 578.0 | M | F + A + D + R + I | |
| Ic | F | 34 | Muscle weakness of BLL | UDL + BLL + IP | – | – | UDL + LDL | 254.0 | M | F + A + D + R | |
| II | M | 29 | Muscle weakness of BLL | LDL | + | – | – | 1621.0 | M | F + A + D + R | |
| c.830G>A (p.R277Q) | IIIa | F | 18 | Muscle weakness of BLL | AL | + | – | NM | 284.0 | M | A + R |
| IIIb | F | 27 | Muscle weakness of BLL | AL | – | – | NM | NM | M | NM | |
| IIIc | M | 27 | Muscle weakness of BLL | UDL + BLL | + | – | NM | NM | M | NM | |
| IIId | F | 28 | Muscle weakness of LDL | UDL + BLL | + | – | NM | 172.0 | M | A + D + R + IN | |
| IV | F | 21 | Muscle weakness of LDL | AL | – | – | NM | 294.0 | M | F + R | |
| V | M | 18 | Muscle weakness of LDL | UPL + LDL | + | – | NM | 384.0 | NM | NM | |
| VI | NM | 18–24 | Muscle weakness of LDL | NM | + | – | NM | NM | NM | NM | |
| VII | F | 21 | Muscle weakness of LDL | AL | + | – | NM | NM | N | R | |
| VIII | F | 19–34 | Muscle weakness of LDL | NM | Unknown | – | NM | NM | NM | NM |
Abbreviations: UPL, upper proximal limbs; UDL, upper distal limbs; LPL, lower proximal limbs; LDL, lower distal limbs; IP, iliopsoas; BLL, both lower limbs; AL, all limbs; NM, not mentioned; M, myogenic lesion; N, neurogenic lesion; F, fibre size variation; A, atrophic myofibre; D, degenerative, necrotic and regenerative myofibre; R, rimmed vacuoles; I, inflammatory infiltration; IN, internal nuclei.