Partial laminin alpha 2 chain deficiency in a patient with myopathy resembling inclusion body myositis

It is becoming evident that clinical phenotypes associated with partial lam inin alpha 2 chain deficiency are variable. We recently observed a 29-year- old man with leukoencephalopathy and vacuolar myopathy resembling inclusion body myositis. Laminin alpha 2 immunohistochemical analysis showed reducti on of the protein on muscle fiber surfaces. Molecular analysis revealed two novel compound heterozygous mutations in the LAMA2 gene. This is the first report linking a mutation in the LAMA2 gene with leukoencephalopathy and i nclusion body-like myositis.