Table 2

Clinical features of patients with immunohistochemical abnormalities of laminin α2: review of 248 reported cases2-150

Clinical featureNo of cases (where reported)Frequency rangeOur seriesCases with mutations identified2-151
% (n=248)% (where reported)
Presentation
 Birth–6 months219/24888882/550/54
 7 months–2 years19/248882/52/54
 >2 years7/248331/52/54
 Asymptomatic3/248110/50/54
Walking independently
 Not walking by 2 years95/12740753/549/54
 Walking by 2 years11/127592/52/54
 Learnt to walk after 2 years16/1277120/53/54
 Walk ?age5/127240/50/54
Progression of weakness
 Improving4/252160/5
 Static8/253325/5
 Slowly progressive13/255520/5
 Rapidly progressive0/25000/5
Creatine kinase
 <1000 U/l24/12410190/53/27
 >1000 U/l100/12442815/524/27
MRI
 “Typical” white matter changes156/17563904/533/38
 Neuronal migration defect9/175451/51/38
 Normal10/175460/54/38
Mental retardation
 Normal intellect121/13849882/543/48
 Mild8/138361/53/48
 Moderate3/138121/51/48
 Severe6/138240/51/48
Seizures19/978201/55
Cardiac involvement7/203350/10
  • 2-150 References 4, 5, 6, 7, 9, 11, 12, 13, 14, 15, 16, 18, 20, 21,22, 23, 24, 25, 26, 27, 29, 30, 31, 32, 33, 34, 35, 36, 44, 48, 50, 52,57, 58, 59, 61, 62, 63, 64, 65, 66, 67.

  • 2-151 Figures are expressed as a proportion of those in which the feature is specifically reported. Progression of weakness was not specifically reported.