Cytoskeletal and extracellular matrix alterations in limb girdle muscular dystrophy 2I muscle fibers

Patrizia Sabatelli, Camilla Pellegrini, Cesare Faldini, Luciano Merlini

Research output: Contribution to journalArticlepeer-review

Abstract

In this detailed muscle biopsy study of a patient with molecularly confirmed diagnosis of limb-girdle muscular dystrophy 2I (LGMD2I) we show some new data, that is the presence of altered expression pattern of costamere components as integrin 7B and integrin 1D associated with vinculin costameric derangement and basal lamina ultrastructural abnormalities as detachments and discontinuities suggesting that different cellular compartments are involved in LGMD2I and the altered basement membrane-plasmalemma-cytoskeleton binding can underlie muscle degeneration.

Original languageEnglish
Pages (from-to)510-511
Number of pages2
JournalNeurology India
Volume60
Issue number5
DOIs
Publication statusPublished - Sep 2012

Keywords

  • Fukutin-related protein gene
  • integrin 7B
  • itegrin 1D
  • limb-girdle muscular dystrophy
  • vinculin costameric derangement

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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