Congenital muscular dystrophy with primary partial laminin alpha 2 chain deficiency: Molecular study

The authors report a case of congenital muscular dystrophy with mild nonpro gressive muscle weakness, white matter hypodensity, and absence of the lami nin alpha2 chain in muscle fibers with two antibodies, but not with four ot hers. They identified mutations in LAMA2, which explain the partial laminin alpha2 deficiency. Analysis of this case and two others allows us to refin e the epitopes of two of the commercial antibodies, and illustrate the impo rtance of using antibodies directed against different domains of the protei n.