Article
A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy.
Neurology - 24 Oct 2000
Pegoraro E, Fanin M, Trevisan C P, Angelini C, Hoffman E P
Abstract excerpt
OBJECTIVES: Laminin alpha2 deficiency presents at birth with muscle weakness, hypotonia, and usually asymptomatic white matter signal on MRI. Few patients with laminin alpha2 deficiency have been described with seizures and structural brain abnormalities. The reason for the variation in the severity of the clinical phenotype in congenital muscular dystrophy (CMD) with laminin alpha2 deficiency is not known....
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