Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene

Costanza Lamperti, Rachele Cagliani, Patrizia Ciscato, Isabella Moroni, Maurizio Viri, Antonio Romeo, Gigliola Fagiolari, Alessandro Prelle, Giacomo Pietro Comi, Nereo Bresolin, Maurizio Moggio

Research output: Contribution to journalArticle

Abstract

Congenital muscular dystrophies (CMD) are autosomal recessive infantile disorders characterized by dystrophic changes at muscle biopsy and contractures. Central nervous system (CNS) abnormalities associated with mental retardation are often present. We describe a patient affected with muscle weakness, psychomotor developmental delay and normal brain MRI. Muscle biopsy showed complete absence of the α-dystroglycan (DG) glycosylated epitope and preservation of α-dystroglycan (α-DG) protein core. The analysis of FKRP, LARGE, POMT1 and POMGnT1 genes did not show any pathogenic mutations, suggesting that at least another gene may account for CMD with secondary glycosylated α-DG deficiency.

Original languageEnglish
Pages (from-to)47-51
Number of pages5
JournalJournal of the Neurological Sciences
Volume243
Issue number1-2
DOIs
Publication statusPublished - Apr 15 2006

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Keywords

  • α-Dystroglycan
  • Congenital muscular dystrophy
  • Fukutin-related protein
  • Glycosylation

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Developmental Neuroscience
  • Neurology
  • Neuroscience(all)

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