Article
Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases.
Neurology - 1 Jul 1998
Cohn R D, Herrmann R, Sorokin L, Wewer U M, Voit T
Abstract excerpt
OBJECTIVE: To characterize the expression of distinct fragments of laminin alpha2 chain in patients with partial laminin alpha2 chain deficiency and variable clinical severity. BACKGROUND: Deficiency of laminin alpha2 chain caused by mutations of the LAMA2 gene on chromosome 6q2 account for approximately 50% of cases of congenital muscular dystrophy (CMD) in white patients. The complete absence of laminin alpha2...
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