Table 1

Cases with laminin α2 abnormality

Case/sexAge of onset/ presentationCurrent 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 presentationContracturesCNS involvement/ intellect/seizuresCerebral MRI scan (T2 weighted images)
Chemicon MAB1922NCL-merosin
Case 1 FBirth9 y/stood with support (4 y)NegativeNegativeNegative7121 (1/12)Marked neonatal hypotoniaYesNormal intellect No seizures“Typical” white matter changes
Case 2 FBirth5 y/sat unsupported (3 y)↓ amount N size2009 (11/12)Marked neonatal hypotoniaYesFocal seizures Moderate intellectual delay“Typical” white matter changes
Case 3 M4 y7 y/walked (18 mth)NegativeNegativeNegative3554 (4 y)Asymmetrical limb-girdle weaknessYesNormal intellect No seizures“Typical” white matter changes1-150
Case 4 FPresented at 2 y6 y/walked (2 y)+Insufficient muscleNegative2500 (2 y)Limb-girdle weaknessNoNormal intellect No seizures“Typical” white matter changes
Case 5 FPresented at 2 y7 y/sat unsupported (18 mth)↓↓↓ amount N size3371 (18/12)Generalised weakness and hypotoniaYesNo seizures Severe intellectual delayFocal cortical dysplasia Patchy increased white matter signals1-151
  • + = patchy (discontinuous) membrane staining, ↓ = decreased (continuous) membrane staining, ↓ amount = decreased amount, N = normal.

  • 1-150 Fig 1.

  • 1-151 Fig 2.