Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry.

Abstract excerpt

UNLABELLED: The laminins comprise of a family of heterotrimeric proteins of the extracellular matrix. The crossshaped proteins consist of a heavy alpha-chain and two light chains, called beta and gamma. Each group of chains, classified on their sequence identity and domain organization, include different isoforms. A deficiency of the alpha 2 chain of laminin-2, previously termed merosin or M component, was shown...

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