Summary of the clinical features, genetic characterization, and International Society on Thrombosis and Hemostasis-Bleeding Assessment Tool for patients with Bethlem myopathy or UCMD included in this study
| . | Patient 1/F . | Patient 2/M . | Patient 3/M . | Patient 4/F . | Patient 5/F . |
|---|---|---|---|---|---|
| Clinical phenotype | BetMy AD | UCMD intermediate | BetMy | BetMy AD | BetMy AD |
| Onset | |||||
| Age | Adolescence | Neonatal | Neonatal | Adolescence | Childhood |
| Symptoms | Difficulties in sport | Hypotonia, respiratory distress | Hypotonia, finger contractures | Shoulder and knee dislocation | Slower than peers |
| Last evaluation | |||||
| Age | 20 | 20 | 18 | 47 | 54 |
| Best motor function | Run | WCB (8 y) | Run | Walk | Walk |
| COL6A mutations | COL6A3: c.5035G>T; p.Gly1679Trp | COL6A1: c.930 + 189C>T, intron 11 | COL6A3: c.4859C>T, p.Pro1620Leu (pseudohomozygosity) | COL6A3: c.5035G>T; p.Gly1679Trp | COL6A3: c.5035G>T; p.Gly1679Trp |
| Platelet count (×109/L)* | 251 | 269 | 212 | 267 | 237 |
| Bleeding phenotype | Menorrhagia, mild trauma-related bruises | Not applicable | Not applicable | Menorrhagia, mild trauma-related bruises, mild oral cavity bleeding, postpartum hemorrhage | Menorrhagia, mild trauma-related bruises, mild oral cavity bleeding |
| ISTH-BAT43 | 2 | 0 | 0 | 4 | 7 |
| . | Patient 1/F . | Patient 2/M . | Patient 3/M . | Patient 4/F . | Patient 5/F . |
|---|---|---|---|---|---|
| Clinical phenotype | BetMy AD | UCMD intermediate | BetMy | BetMy AD | BetMy AD |
| Onset | |||||
| Age | Adolescence | Neonatal | Neonatal | Adolescence | Childhood |
| Symptoms | Difficulties in sport | Hypotonia, respiratory distress | Hypotonia, finger contractures | Shoulder and knee dislocation | Slower than peers |
| Last evaluation | |||||
| Age | 20 | 20 | 18 | 47 | 54 |
| Best motor function | Run | WCB (8 y) | Run | Walk | Walk |
| COL6A mutations | COL6A3: c.5035G>T; p.Gly1679Trp | COL6A1: c.930 + 189C>T, intron 11 | COL6A3: c.4859C>T, p.Pro1620Leu (pseudohomozygosity) | COL6A3: c.5035G>T; p.Gly1679Trp | COL6A3: c.5035G>T; p.Gly1679Trp |
| Platelet count (×109/L)* | 251 | 269 | 212 | 267 | 237 |
| Bleeding phenotype | Menorrhagia, mild trauma-related bruises | Not applicable | Not applicable | Menorrhagia, mild trauma-related bruises, mild oral cavity bleeding, postpartum hemorrhage | Menorrhagia, mild trauma-related bruises, mild oral cavity bleeding |
| ISTH-BAT43 | 2 | 0 | 0 | 4 | 7 |
AD, autosomal dominant; BetMy, Bethlem myopathy; ISTH-BAT, International Society on Thrombosis and Hemostasis-Bleeding Assessment Tool; WCB, wheelchair bound.
Normal value: 200 to 450 ×109/L.