title: Severe congenital muscular dystrophy in a LAMA2-mutated case.
abstract: Clinical features and molecular data are described for a patient with undetectable expression of laminin alpha2 chain (merosin) and severe congenital muscular dystrophy. Molecular analysis of the LAMA2 gene revealed two previously un-described mutations. The patient achieved independent sitting at age 2, but lost head balance at age 7; he was never able to stand unsupported. Cerebral magnetic resonance imaging revealed diffuse hypomyelination in both cerebral hemispheres; electrophysiological assessment revealed progressive sensorimotor axonal polyneuropathy. Investigation of the primary molecular defect in congenital muscular dystrophy patients is important for genetic counseling, because the clinical features of the various forms overlap, and because significant laminin alpha2 chain reduction may occur in patients with primary defects in other genes.
authors.affiliation: Division of Neuromuscular Diseases and Neuroimmunology, Istituto Nazionale Neurologico C. Besta, Milan, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Di Blasi
authors.forename: Nens
authors.initials: N
authors.lastname: van Alfen
authors.forename: Francesca
authors.initials: F
authors.lastname: Colleoni
authors.forename: Henk
authors.initials: H
authors.lastname: ter Laak
authors.forename: Marina
authors.initials: M
authors.lastname: Mora
mesh_terms: D002648:Child; D006801:Humans; D007797:Laminin / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*
chemical_list: D007797:Laminin; C102645:laminin alpha 2