Congenital muscular dystrophy with primary partial laminin α2 chain deficiency: Molecular study
- 9 October 2001
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 57 (7) , 1319-1322
- https://doi.org/10.1212/wnl.57.7.1319
Abstract
The authors report a case of congenital muscular dystrophy with mild nonprogressive muscle weakness, white matter hypodensity, and absence of the laminin α2 chain in muscle fibers with two antibodies, but not with four others. They identified mutations in LAMA2, which explain the partial laminin α2 deficiency. Analysis of this case and two others allows us to refine the epitopes of two of the commercial antibodies, and illustrate the importance of using antibodies directed against different domains of the protein.Keywords
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