Table 1 Detailed clinical features of patients with COLQ gene variants
From: COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
Clinical Findings | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Patient ID | Sex | AAD (y) | AAO (y) | Consanguinity | Family History | DDMM | First Symptom | Follow-up Duration (m) | Progression | Diurnal Variation | Ptosis/ Ophtalmoparesis | Facial Weakness | Sluggish Pupils | High-arched Palate | PMH | MRC Sumscore | Repetitive CMAP | Decrement in LFRNS (%) | Needle EMG |
P 1.1 | F | 36 | At birth | + | + | + | Ptosis/ Limb Weakness | 26 | Steady | + | +/+ | + | - | + | HTN | 40 | NA | NA | NA |
P 1.2 | F | 31 | At birth | + | + | + | Ptosis/ Limb Weakness | 20 | Steady | + | +/+ | + | - | + | - | 54 | NA | NA | NA |
P 2 | F | 39 | 9 | + | - | - | Progressive Proximal Weakness | 12 | Progressive | - | -/- | - | - | - | HLP | 58 | - | 33.20% | Myopathic |
P 3 | M | 9 | At birth | + | + | + | Floppy Baby | 7 | Steady | + | -/- | + | - | + | - | 56 | - | 37.80% | Myopathic |
P 4 | M | 19 | At birth | + | + | + | Floppy Baby | 67 | Steady | - | +/+ | + | - | - | - | 59 | + | 39% | NA |
P 5.1 | M | 20 | 9 | + | + | - | Fatiguability/ Limb Weakness | 92 | Progressive | + | -/- | - | + | - | - | 61 | + | 31.60% | Myopathic |
P 5.2 | M | 11 | 8 | + | + | - | Fatiguability | 12 | Progressive | - | +/- | + | + | - | - | 68 | + | 11% | Myopathic |
P 6 | F | 32 | 3 | + | - | - | Ptosis/ Limb Weakness | 48 | Steady | + | +/+ | + | - | + | - | 61 | + | 43.90% | NA |
P 7.1 | F | 9 | At birth | + | + | + | Ptosis | 6 | Steady | - | +/+ | + | + | - | - | 51 | + | 43.50% | Myopathic |
P 7.2 | M | 18 | At birth | + | + | + | Ptosis/ Fatiguability | 6 | Steady | - | +/+ | + | + | - | - | 56 | + | 14% | Myopathic |
P 8 | F | 13 | 7 | + | - | - | Limb Weakness | 19 | Steady | - | -/- | - | - | - | Febrile Convulsion | 58 | + | 35.90% | NA |
P 9.1 | M | 15 | 9 | + | + | - | Limb Weakness | 18 | Progressive | + | -/- | + | + | - | Minor Thalassemia | 56 | + | 21.70% | NA |
P 9.2 | F | 9 | 9 | + | + | - | Limb Weakness | 4 | Steady | - | -/- | - | - | - | Minor Thalassemia | 62 | + | 11.20% | NA |
P 10 | M | 23 | At birth | + | - | + | Floppy Baby | 18 | Progressive | - | +/- | - | + | - | - | 53 | + | 40.70% | NA |
P 11 | M | 22 | At birth | + | + | + | Floppy Baby/ Ptosis | 51 | Steady | + | +/+ | + | - | - | - | 49 | - | 22.80% | NA |
P 12 | M | 16 | 9 | - | - | - | Walking Difficulty | 54 | Steady | + | -/- | + | - | - | - | 60 | + | 42.20% | Myopathic |
P 13 | M | 21 | At birth | - | + | + | Floppy Baby/ Ptosis | 52 | Steady | + | +/+ | + | - | - | - | 56 | + | 71.40% | NA |
P 14 | F | 22 | At birth | - | + | + | Ptosis | 153 | Steady | + | +/+ | + | - | - | Asthma/ Club foot | 49 | - | 65.90% | NA |
P 15 | M | 36 | At birth | + | - | - | Ptosis/ Limb Weakness | 177 | Progressive | + | +/+ | + | + | + | - | 54 | + | 45.30% | NA |
P 16 | M | 16 | At birth | + | + | + | Ptosis/ Limb Weakness | 13 | Steady | - | +/+ | + | - | + | - | 56 | + | 65.60% | Normal |
P17 | M | 27 | 15 | + | - | - | Walking Difficulty | 213 | Steady | + | -/- | + | - | - | - | 56 | + | 35.20% | Myopathic |
P 18 | M | 27 | At birth | + | + | + | Limb Weakness | 134 | Steady | + | +/+ | + | - | - | - | 55 | - | 34.70% | Myopathic |
P 19 | M | 9 | At birth | + | + | + | Limb Weakness | 17 | Steady | + | +/+ | + | - | - | - | 58 | - | 21.60% | Myopathic |
P 20 | M | 17 | 8 | + | - | - | Limb Weakness | 28 | Steady | + | -/- | + | - | - | - | 59 | + | 24% | Myopathic |
P 21 | F | 27 | 3 | + | - | - | Ptosis/ Limb Weakness | 35 | Steady | - | +/+ | - | - | - | - | 54 | + | 35.60% | Myopathic |
P 22 | M | 8 | At birth | + | - | + | Ptosis | 3 | Progressive | + | +/+ | + | + | - | - | 60 | + | 42.40% | Myopathic |