title: [Congenital muscular dystrophy with laminin-a2 deficiency in early infancy: diagnosis and long-term follow-up].
abstract: Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders characterized by muscle weakness and hypotonia at birth or within the first few months of life. It is inherited in an autosomal recessive pattern. About half of the patients have a deficiency of the alpha-2-chain of laminin (merosin). We describe a case of congenital muscular dystrophy in an infant with laminin-a2-chain deficiency, which appeared hypotonia in early infancy. Diagnosis was made by clinical features and the histological and immunohistochemical studies on muscle biopsy.
authors.affiliation: III. Abteilung für Pädiatrie, Aristoteles Universität Thessaloniki und Labor für Pathologische Anatomie, Hippokration Krankenhaus, Thessaloniki, Griechenland. cpantel@med.auth.gr
authors.forename: C
authors.initials: C
authors.lastname: Panteliadis
authors.forename: E
authors.initials: E
authors.lastname: Karatza
authors.forename: I
authors.initials: I
authors.lastname: Xinias
authors.forename: N
authors.initials: N
authors.lastname: Flaris
authors.forename: M
authors.initials: M
authors.lastname: Tzitiridou
authors.forename: G
authors.initials: G
authors.lastname: Ramantani
mesh_terms: D001706:Biopsy; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007797:Laminin / Q000172:deficiency*; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology
chemical_list: D007797:Laminin