A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation

S. Saredi, S. Gibertini, A. Ardissone, I. Fusco, S. Zanotti, F. Blasevich, L. Morandi, I. Moroni, M. Mora

Research output: Contribution to journalArticle

Abstract

Background POMT2 mutations have been identified in Walker-Warburg syndrome or muscle-eye-brain-like, but rarely in limb girdle muscular dystrophy (LGMD). Results Two POMT2 mutations, one null and one missense, were found in a patient with LGMD and mild mental impairment, no brain or ocular involvement, minor histopathological features, and slight reduction of α-dystroglycan (α-DG) glycosylation and α-DG laminin binding. Conclusions Our case, the fourth LGMD POMT2-mutated reported to date, provides further evidence of correlation between level of α-DG glycosylation and phenotype severity.

Original languageEnglish
Pages (from-to)404-408
Number of pages5
JournalEuropean Journal of Paediatric Neurology
Volume18
Issue number3
DOIs
Publication statusPublished - 2014

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Keywords

  • Congenital muscular dystrophy
  • Limb girdle muscular dystrophy
  • POMT2
  • α-Dystroglycan glycosylation
  • α-Dystroglycanopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

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