title: Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.
abstract: The authors report a case of congenital muscular dystrophy with mild nonprogressive muscle weakness, white matter hypodensity, and absence of the laminin alpha2 chain in muscle fibers with two antibodies, but not with four others. They identified mutations in LAMA2, which explain the partial laminin alpha2 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.
authors.affiliation: INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
authors.forename: Y
authors.initials: Y
authors.lastname: He
authors.forename: K J
authors.initials: KJ
authors.lastname: Jones
authors.forename: N
authors.initials: N
authors.lastname: Vignier
authors.forename: G
authors.initials: G
authors.lastname: Morgan
authors.forename: M
authors.initials: M
authors.lastname: Chevallay
authors.forename: A
authors.initials: A
authors.lastname: Barois
authors.forename: B
authors.initials: B
authors.lastname: Estournet-Mathiaud
authors.forename: H
authors.initials: H
authors.lastname: Hori
authors.forename: T
authors.initials: T
authors.lastname: Mizuta
authors.forename: F M
authors.initials: FM
authors.lastname: Tomé
authors.forename: K N
authors.initials: KN
authors.lastname: North
authors.forename: P
authors.initials: P
authors.lastname: Guicheney
mesh_terms: D000911:Antibodies, Monoclonal / Q000276:immunology; D000918:Antibody Specificity; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D000939:Epitopes / Q000276:immunology; D006801:Humans; D007150:Immunohistochemistry; D007797:Laminin / Q000172:deficiency / Q000235:genetics* / Q000276:immunology; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010641:Phenotype
chemical_list: D000911:Antibodies, Monoclonal; D000939:Epitopes; D007797:Laminin; C102645:laminin alpha 2