Table 1.
Description, clinical features and genetic characterization of the 7 patients with COL6-related myopathies that participated in the LPD trial.
| Patient | Age/Gender | Diagnosis | Clinical features | Mutation |
|---|---|---|---|---|
| 1 | 48/W | BM | Unable to run age 6 y, DL, FC, severe RI, A | COL6A2 exon 6 c.802 G>A het; (p.Gly268Ser)38 |
| 2 | 36/M | BM | Unable to run age 18 y, FC, mild RI, A | COL6A2 intron 25 c.1970-3 C>A het; (p.Thr656_Ala698del)38 |
| 3 | 19/W | UCMD | Floppy at birth, CHD, DL, FC, SC, MV age 11 yr, NA (walked 20 mo-6 y) | COL6A1 exon8-intron 8 c.798_804+8del 15 het.; (p.Pro254_Glu268 del)39 |
| 4 | 27/M | BM | Clubfoot, mild distal limb weakness age 6 y, FC, normal respiratory function, A | COL6A3 exon 11 c.4928 T>G het; (p.Leu1643Arg)38 |
| 5 | 28/M | BM | Clubfoot, never able to run, diffuse contractures, FC, moderate RI, A | COL6A2 exon 26 c.2098 G>A; (p.Gly700Ser)40 |
| 6 | 41/W | BM | First steps at 2 y, never able to run, DL, FC, moderate RI, A | COL6A3 exon 17 c. 6230 G>A het; (p.Gly2077Asp)38 |
| 7 | 22/W | BM | CHD, first steps age 2.5 y, FC, DL, SC, moderate RI, A | COL6A2 exon 7 c.883 G>A het; (p.Gly295Arg)38 |
Note. Moderate respiratory insufficiency corresponds to a FVC between 50% and 70%; severe respiratory insufficiency corresponds to a FVC less than 50%.7A, ambulant; CHD, congenital hip dislocation; DL, distal laxity; FC, finger contractures; MV, nocturnal mechanical ventilation; NA, not ambulant; RI, respiratory insufficiency; SC, skin changes (keloid formation, follicular hyperkeratosis).