Severe Congenital Muscular Dystrophy in a LAMA2-Mutated Case

Claudia Di Blasi, Nens van Alfen, Francesca Colleoni, Henk ter Laak, Marina Mora

Research output: Contribution to journalArticle

Abstract

Clinical features and molecular data are described for a patient with undetectable expression of laminin α2 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 α2 chain reduction may occur in patients with primary defects in other genes.

Original languageEnglish
Pages (from-to)212-214
Number of pages3
JournalPediatric Neurology
Volume37
Issue number3
DOIs
Publication statusPublished - Sep 2007

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ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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