Table 2 CTG repeats in the DMPK gene and clinical feature comparisons among different ethnicities
References | Region/country | PMID | Sample size | Female% | Age | Age of onset | Blood CTG repeats | Top three most prevalent symptoms | First symptom | Cataract% | Cardiac defects% | Abnormal glucose metabolism% | Daytime sleepiness% | Cognitive impairment% | Cancer% |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Groh et al. [16] | US | 21484823 | 406 | 49% | 42 ± 12 | 26 ± 15 | 629 ± 386 | NA | NA | NA | 46% | NA | NA | NA | NA |
Peric et al. [24] | Serbia | 22695270 | 120 | 42% | 46 ± 12 | NA | NA | NA | NA | 78% | 68% | NA | NA | 61% | NA |
Petri et al. [20] | Denmark | 24704412 | 129 | 50% | 44 ± 15 | NA | NA | NA | NA | NA | 55% | NA | NA | NA | NA |
Lu et al. [7] | China | 30276279 | 37 | 27% | NA | 22 [14, 30] | NA | Myotonia, muscle weakness, forehead hair loss | Myotonia | 32% | 35% | NA | 32% | NA | NA |
Wood et al. [22] | UK | 28397002 | 556 | 51% | 41 ± 17 | 26 ± 16 | 364 ± 266 | Fatigue, daytime sleepiness myotonia | NA | 26% | 48% | NA | 78% | NA | NA |
Hagerman et al. [25] | North America | 30677147 | 457 | 60% | 45 ± 15 | 27 ± 15 | NA | Muscle weakness, fatigue, daytime sleepiness | NA | NA | NA | 14% | 87% | 63% | NA |
Rossi et al. [15] | Italy | 30798109 | 268 | 44% | 46 ± 13 | 25 ± 13 | 613 ± 623 | NA | NA | NA | 31% | NA | 63% | NA | NA |
Papadimas et al. [26] | Greek | 36555146 | 434 | 52% | NA | 26 ± 15 | NA | Muscle Weakness, myotonia hypotonia | Muscle weakness | 28% | 19% | 4% | 8% | 1% | 1% |
Yamauchi et al. [17] | Japan | 36762492 | 809 | 51% | 44 [36, 52] | 30 [20, 39] | 625 [302,1047] | NA | NA | 46% | 79% | 21% | 71% | NA | 4% |
Zhong et al. (This study) | China | NA | 64 | 56% | 41 ± 12 | 29 ± 13 | 468 ± 139 | Muscle weakness, myotonia, fatigue | Muscles weakness | 14% | NA | 17% | 70% | 25% | 5% |