Family 1
| | | | | | | | | | |
II:2 | M | 73 | 7 years: slow gait | – | Mild: global | – | – | – | | Stable |
II:4 | F | 70 | 8 years: slow gait | – | Moderate: proximal UE | Mild | – | – | Mild scoliosis | Improvement |
II:6 | F | 66 | 5 years: slow gait | – | Moderate: global | Mild | – | – | Mild scoliosis | Stable |
II:8 | F | 62 | 7 years: slow gait | – | Mild: proximal UE, trunk | Moderate | – | – | Mild scoliosis, high arched palate | Improvemnent |
III:3 | M | 41 | 8 years: slow gait | – | Mild: proximal E, trunk | – | – | – | Mild scoliosis, genu varum | Stable |
III:9 | F | 39 | Infancy | Walked at 3 years | Moderate: proximal E, trunk | Moderate | – | – | Moderate scoliosis, high arched palate | Stable |
III:12 | F | 39 | 4 years: slow gait | – | Mild: proximal LE | – | – | – | Mild scoliosis | Stable |
IV:3 | F | 15 | 6 years: slow gait | – | Mild: proximal LE | – | – | – | Mild scoliosis, moderate scapular winging, genu valgum | Stable |
IV:11 | M | 13 | 7 years: waddling gait | – | Mild: proximal LE | – | – | – | Funnel chest | Stable |
IV:13 | M | 11 | 2 years: slow gait and severe intoeing | Walked at 2 years | Mild: proximal LE, post-exertional myalgia | Mild | – | – | Joint hyperlaxity, femoral anteversion, internal tibial torsion, scapular winging, high arched palate | Improvement |
Family 2
| | | | | | | | | | |
II:6 | M | 49 | Infancy | Walked at 6 years | Mild: global; LE>UE | Mild | Hypertrophic cardiomyopathy | 49 years: global, nocturnal respiratory support | Funnel chest, flat feet | Stable |
II:2 | M | 35 | Infancy | Walked at 5 years | Mild: global | Mild | Hypertrophic cardiomyopathy | 32 years: global, nocturnal respiratory support | Joint hyperlaxity, flat feet, scoliosis, funnel chest, high arched palate | Stable |
III:4 | F | 5 | Infancy | Walked at 2 years | Mild: LE | – | – | – | Joint hyperlaxity, high arched palate | Stable |
III:2 | M | 18 | Infancy | – | Mild: global | Mild | – | – | Funnel chest, flat feet | Stable |