Table 1.
The Clinical features of 4 individuals with PLIN4 repeat expansion mutation.
| Patient | F‐II7 | F‐III3 | F‐IV2 | S |
|---|---|---|---|---|
| Sex | M | M | M | M |
| Age of onset | 49 | 40 | 22 | 49 |
| Disease duration (years) | 15 | 11 | 1 | 11 |
| Initial symptom | Weakness in climbing upstairs | Waddling gait | ‐ | Weakness in climbing upstairs |
| Muscle strength | ||||
| Neck flexion weakness | ‐ | ‐ | ‐ | + |
| Limb muscle weakness | P > D, L > U | P > D, L > U | ‐ | P > D, L > U |
| Deep tendon reflexes | Absent | Absent | Brisk | Absent |
| Skeletal deformities | Winging scapula | ‐ | ‐ | ‐ |
| Maximal mobility | Sit | Walk with support | Run | Sit |
| Other clinical features | ||||
| Ophthalmoplegia | ‐ | ‐ | ‐ | ‐ |
| Facial weakness | ‐ | ‐ | ‐ | ‐ |
| Dysphagia | ‐ | ‐ | ‐ | ‐ |
| Dysarthria | ‐ | ‐ | ‐ | ‐ |
| Respiratory abnormalities | ‐ | ‐ | ‐ | Restrictive ventilation |
| Cardiac abnormalities | ‐ | ‐ | ‐ | ‐ |
| Serum creatine kinase 1 | 822 IU/L | 752 IU/L | 267 IU/L | 256 IU/L |
| EMG pattern | MP+ CRDs | MP+ CRDs | MP + CRDs | MP+ CRDs |
| Muscle magnetic resonance | ||||
| Fatty infiltration |
Thigh: VIM, VM, ADDMAG, ADDBRE, SM Calf: SOL, GAS, TA, EDL, EHL, PL, PB |
Thigh: VIM, VM, VL, SAR, ADDLON, ADDMAG, SM |
Thigh: ‐ Calf: ‐ |
Thigh: VIM, VM, VL, ADDMAG, ADDBRE, SAR, SM, ST, BF Calf: SOL, GAS, PB |
| Edema |
Thigh: VIM, VM, ADDMAG, ADDBRE, SM, BF Calf: GAS, TA, EDG, EHL, PL, PB |
Calf: SOL, GAS, TA, EDL, EHL, PB Thigh: VIM, VM, ADDMAG, ADDBRE, SM, BF Calf: SOL, PL, EHL |
Thigh: ‐ Calf: SOL, GAS |
Thigh: VIM, VM, VL Calf: SOL, GAS, PL |
Abbreviations: ADDBRE, adductor brevis; ADDLON, adductor longus; ADDMAG, adductor magnus; BF, biceps femoris; CRDs, complex repetitive discharges; D, distal muscle; EDL, extensor digitorum longus; EHL, extensor hallucis longus; F, family patient; F, female; GAS, gastrocnemius; L, lower limbs; M, male; MP, myopathic pattern; P, proximal muscle; PB, peroneus brevis; PL, peroneus longus; S, sporadic patient; SAR, sartorius; SM, semimembranosus; SOL, soleus; ST, semitendinosus; TA, tibialis anterior; U, upper limbs; VIM, vastus intermedius; VL, vastus lateralis; VM, vastus medialis.
Normal limits: 70–170 IU/L.