Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases.

doi:10.1212/wnl.51.1.94

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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 appro...

Topics

Adult
Antibodies
Basement Membrane
Child, Preschool
Epitopes
Fluorescent Antibody Technique
Gene Expression
Humans
In Vitro Techniques
Infant
Infant, Newborn
Laminin
Muscular Dystrophies
Phenotype
Protein Structure, Tertiary

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