Partial laminin α2 chain deficiency in a patient with myopathy resembling inclusion body myositis

Claudia Di Blasi, Marina Mora, Davide Pareyson, Laura Farina, Angelo Sghirlanzoni, Nicolas Vignier, Flavia Blasevich, Ferdinando Cornelio, Pascale Guicheney, Lucia Morandi

Research output: Contribution to journalArticlepeer-review

Abstract

It is becoming evident that clinical phenotypes associated with partial laminin α2 chain deficiency are variable. We recently observed a 29-year-old man with leukoencephalopathy and vacuolar myopathy resembling inclusion body myositis. Laminin α2 immunohistochemical analysis showed reduction of the protein on muscle fiber surfaces. Molecular analysis revealed two novel compound heterozygous mutations in the LAMA2 gene. This is the first report linking a mutation in the LAMA2 gene with leukoencephalopathy and inclusion body-like myositis.

Original languageEnglish
Pages (from-to)811-816
Number of pages6
JournalAnnals of Neurology
Volume47
Issue number6
DOIs
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Neuroscience(all)

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