Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome

Marcello Villanova, Patrizia Sabatelli, Yi He, Alessandro Malandrini, Stefania Petrini, Nadir M. Maraldi, Luciano Merlini

Research output: Contribution to journalArticle

Abstract

A previous study of two patients with Walker-Warburg syndrome (WWS) showed a severe deficiency of the extracellular matrix protein laminin β2 chain and α-sarcoglycan (adhalin) in skeletal muscle fibers. More recently, however, other researchers have shown that in their WWS patients the expression of the laminin β2 chain and α-sarcoglycan was normal. Here we describe a 1-year-old boy affected with WWS. We performed immunohistochemical studies on a muscle biopsy from this patient using monoclonal antibodies against dystrophin, dystrophin-associated glycoproteins and several proteins of the extracellular matrix. We confirm previously reports as far as the diminished expression of laminin β2 chain and α-sarcoglycan is concerned. The expression of some other laminins was unusual, whereas the expression of collagen IV and VI was normal. These results suggest that complex syndromes like WWS are quite heterogeneous, although they might represent variant expressions of a single pathological entity.

Original languageEnglish
Pages (from-to)651-654
Number of pages4
JournalActa Neuropathologica
Volume96
Issue number6
DOIs
Publication statusPublished - Dec 1998

Keywords

  • Congenital muscular dystrophy
  • Immunocytochemistry
  • Laminin
  • Muscle
  • Walker-Warburg syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Neuroscience(all)

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