Cases with laminin α2 abnormality
| Case/sex | Age of onset/ presentation | Current age/ maximum motor milestone (age) | Immunocytochemistry (laminin α2) | Immunoblot (laminin α2 Chemicon MAB1922) | Highest serum CK (U/l) (normal <200U/l) (age) | Pattern of weakness at presentation | Contractures | CNS involvement/ intellect/seizures | Cerebral MRI scan (T2 weighted images) | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chemicon MAB1922 | NCL-merosin | ||||||||||||||||||
| Case 1 F | Birth | 9 y/stood with support (4 y) | Negative | Negative | Negative | 7121 (1/12) | Marked neonatal hypotonia | Yes | Normal intellect No seizures | “Typical” white matter changes | |||||||||
| Case 2 F | Birth | 5 y/sat unsupported (3 y) | ↓ | ↓ | ↓ amount N size | 2009 (11/12) | Marked neonatal hypotonia | Yes | Focal seizures Moderate intellectual delay | “Typical” white matter changes | |||||||||
| Case 3 M | 4 y | 7 y/walked (18 mth) | Negative | Negative | Negative | 3554 (4 y) | Asymmetrical limb-girdle weakness | Yes | Normal intellect No seizures | “Typical” white matter changes1-150 | |||||||||
| Case 4 F | Presented at 2 y | 6 y/walked (2 y) | + | Insufficient muscle | Negative | 2500 (2 y) | Limb-girdle weakness | No | Normal intellect No seizures | “Typical” white matter changes | |||||||||
| Case 5 F | Presented at 2 y | 7 y/sat unsupported (18 mth) | ↓ | ↓↓ | ↓ amount N size | 3371 (18/12) | Generalised weakness and hypotonia | Yes | No seizures Severe intellectual delay | Focal cortical dysplasia Patchy increased white matter signals1-151 | |||||||||