It is becoming evident that clinical phenotypes associated with partial laminin α2 chain deficiency are variable. We recently observed a 29-year-old man with leukoencephalopathy and vacuolar myopathy resembling inclusion body myositis. Laminin α2 immunohistochemical analysis showed reduction 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 inclusion body-like myositis.
|Number of pages||6|
|Journal||Annals of Neurology|
|Publication status||Published - 2000|
ASJC Scopus subject areas