|
| | c.2938G > A homo | c.1287 + 5G > A homo | c.2938G > A, c.661-1G > T | c.1893+3A>G, g.4:184,607,904A>G | c.142C>T, g.27324T>A | c2330A>C, c513-516 (delTTTG) | c. 1192C>T, c.3014C>T |
|
| Number of patients | 3 | 5 | 1 | 4 | 1 | 2 | 2 |
| Age of onset of muscle symptoms | Early school age | Early childhood onset | Around 1-year-old or even earlier | NR | NR | Early childhood onset | Approx. 2-year-old |
| Muscle pathology | Proximal weakness, myalgia, cramps Myopathic | Mild weakness and hypotonia, myopathic | Proximal weakness, hypotonia Dystrophic | Weakness, Dystrophy, Atrophy | Hypotonia | Mild weakness and hypotonia, myopathic | Proximal weakness |
| CK (IU/L) | 600~2800 | 300~1000 | 6000~9000 | - | NR | 800~7000 | 7989 |
| Head circumference | Within normal limits | <3rd percentile | (−) | (-) | NR | <1st percentile | Within normal range |
| Intellectual disability | (−) | (+) | Borderline | + | (+) | (+) | (-) |
| Ataxia | (−) | (+) | (−) | (-) | (-) | (-) | (-) |
| Choreiform movement | (−) | (+) | (−) | (-) | (-) | (-) | (-) |
| Other neurological problems | (−) | Generalized seizure
Abnormal EEG | (−) | (-) | (-) | Generalized seizure, Abnormal EEG | (−) |
| Neuroimaging Cardiac involvement | Enlarged right ventricle | Mild cerebral atrophy | Reduced white matter volume | Cerebral atrophy | NR | Brachycephaly | NA |
| Skeletal involvement | Hip dysplasia, scoliosis | Limb asymmetry | Lordosis | (-) | Scoliosis, skeletal anomalies | (-) | (-) |
| Ocular involvement | Esotropia and myopia, cataract | Exophoria, anisometropia, and amblyopia | Infantile—onset cataract | (-) | NR | Cataracts | (-) |
| Hepatic involvement | (−) | (−) | Steatosis | (-) | NR | (-) | GOT:142U/L |
| Reference | (13) | (13) | (14) | (15) | (16) | (17) | Current study |
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