Table 1.
Authors | n | Gender (M/F) | Initial presentation | Age of onset | Age of diagnosis | CK (first visit) |
---|---|---|---|---|---|---|
Mohassel et al,5 2017 | 1 | M | Decrease in running | 9 years | 14 years | 8,000 |
Tard et al,6 2017 | 1 | F | Abnormal gait | 5 years | 19 years | 7,576 |
Liang et al,7 2017 | 4 | NO | Motor delay | 10 months | NO | 352–918 |
NO | Asymptomatic high CK | 6 years | NO | 6,391 | ||
NO | Difficulty in pedaling and climbing stairs | 13 years | NO | 7,183 | ||
NO | Difficulty in climbing stairs | 9 years | NO | 9,570 |
Abbreviations: CK, creatine kinase; HMGCR, 3-hydroxy-3-methylglutaryl coenzyme A reductase; NO, not obtained.