Table 1.
Clinical findings of 29 probands with LAMA2 MD.
| Subject | Sex | Age of onset | Age last seen/Max motor milestone | Highest serum CK U/I (age) | Scoliosis | Contracture | EMG myopathic changes | intellect/seizures | MRI (T2-weighted images) | IH staining of Laminin-a2 |
|---|---|---|---|---|---|---|---|---|---|---|
| P1 | F | Birth | Died when 9 years/sitting | 1630 (17 months) | − | Yes | +Motor nerve CMAP amplitude reduced | Normal intellect/no seizure | WMH | n/a |
| P2 | M | Birth | Died when 5 months/can’t sit | 4100 (2 days) | − | Yes | + | Normal intellect/no seizure | n/a | n/a |
| P3 | F | 4 months | 5 years/walking | 2427 (9 months) | − | Yes | + | Normal intellect/no seizure | WMH | n/a |
| P4 | M | Birth | 5 years/sitting | 1640 (11months) | − | Yes | n/a | Normal intellect/no seizure | WMH | − |
| P5 | M | Birth | 2 years/can’t sit | 2312 (3 months) | − | Yes | + | Normal intellect/no seizure | WMH | n/a |
| P6 | M | Birth | 3 years/sitting | 3148 (10 months) | − | Yes | n/a | Normal intellect/no seizure | WMH | n/a |
| P7 | F | Birth | 7 years/sitting | 3264 (10 months) | + | Yes | +CMAP amplitude reduced | Normal intellect/no seizure | WMH | − |
| P8 | M | Birth | Died when 9 years/sitting | 91 (6 years) | + | Yes | +Motor NCS reduced | Normal intellect/no seizure | WMH | n/a |
| P9 | M | Birth | 5 years/sitting | 2481 (8 months) | − | Yes | +Motor nerve CMAP amplitude reduced | Normal intellect/no seizure | WMH | n/a |
| P10 | M | Birth | 4 years/sitting | 1778 (1 years) | − | Yes | + | Normal intellect/no seizure | WMH | − |
| P11 | M | Birth | 12 years/sitting | n/a | + | Yes | + | Intellectual decay/seizure | WMH | n/a |
| P12 | F | Birth | 3 years/sitting | 1715 (11 months) | − | Yes | + | Normal intellect/no seizure | WMH | n/a |
| P13 | F | 6 months | 3 year/walking | 1337 (24 months) | − | Yes | +Motor NCS reduced | Normal intellect/no seizure | WMH | n/a |
| P14 | F | Birth | 5 months/can’t sit | 8010 (2 months) | − | Yes | n/a | Normal intellect/no seizure | normal (when 5 months) | n/a |
| P15 | M | Birth | 6 years/sitting | 491 (6 years) | + | Yes | + | Normal intellect/no seizure | WMH | n/a |
| P16 | M | Birth | 5 years/sitting | 611 (2 years) | − | Yes | + | Normal intellect/no seizure | WMH | n/a |
| P17 | M | Birth | 6 years/sitting | 2612 (3 months) | + | Yes | + | Normal intellect/no seizure | WMH | n/a |
| P18 | F | Birth | 8 months/can’t sit | 3551 (8 months) | − | Yes | n/a | Normal intellect/no seizure | WMH | − |
| P19 | M | Birth | 2 years/sitting | 2151 (5 months) | − | Yes | + | Normal intellect/no seizure | WMH | n/a |
| P20 | M | Birth | 3 years/sitting | 3983 (3 months) | − | Yes | + | Normal intellect/no seizure | WMH | − |
| P21 | M | 7 years | 9 years/running | 2103 (6 years) | − | No | n/a | Normal intellect/no seizure | WMH | − |
| P22 | F | 4 months | 10 years/walking | 1565 (16 months) | + | Yes | + | Normal intellect/febrile seizure at 4 years | WMH | n/a |
| P23 | F | Birth | 1 years/can’t sit | 14616 (2 days) | − | Yes | + | Normal intellect/no seizure | WMH | n/a |
| P24 | M | Birth | 1 years/sitting | 3496 (16 months) | − | Yes | + | Normal intellect/no seizure | WMH | n/a |
| P25 | F | Birth | 2 years/sitting | 2757 (6 months) | − | Yes | n/a | Normal intellect/no seizure | WMH | n/a |
| P26 | M | Birth | 10 years/sitting | 3549 (6 months) | + | Yes | + | Normal intellect/no seizure | WMH | − |
| P27 | F | Birth | 2 years/sitting | 4224 (8 months) | − | Yes | + | Intellectual decay/no seizure | WMH | n/a |
| P28 | F | 2 years | 3 years/running | 3078 (2 years) | − | No | +Motor NCS reduced | Normal intellect/no seizure | WMH | n/a |
| P29 | F | Birth | 5 years/sitting | 1500 (2 years) | − | Yes | + | Normal intellect/no seizure | WMH | n/a |
F, female; M, male; CK, creatine kinase; EMG, electromyography; CMAP, compound muscle action potential; NCS, nerve conduction speed; WMH, abnormal white matter hyperintensities on T2-MRI; IH, immunohistochemical; n/a, not available.