Decreased expression of laminin β1 in chromosome 21-linked Bethlem myopathy

L. Merlini, M. Villanova, P. Sabatelli, A. Malandrini, N. M. Maraldi

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

Muscle biopsies of four patients affected by chromosome 21-linked Bethlem myopathy were investigated by means of immunohistochemistry, with monoclonal antibodies for laminin chains, dystrophin and dystrophin associated glycoproteins. The objective of this study was to determine whether an altered molecular structure of collagen type VI, characteristic of Bethlem myopathy, could influence the expression of the protein complex linking the extracellular matrix with the subsarcolemmal cytoskeleton. Normal expression of all proteins was found except for laminin β1, along with an age related progressive deficiency of this protein in the muscle fibre basal lamina. This study shows that Bethlem myopathy linked to chromosome 21 is associated with a secondary decrease in laminin β1 expression. Copyright (C) 1999 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)326-329
Number of pages4
JournalNeuromuscular Disorders
Volume9
Issue number5
DOIs
Publication statusPublished - Jul 1 1999

Fingerprint

Chromosomes, Human, Pair 21
Dystrophin
Collagen Type VI
Protein Deficiency
Muscle Proteins
Laminin
Molecular Structure
Cytoskeleton
Basement Membrane
Extracellular Matrix
Glycoproteins
Proteins
Immunohistochemistry
Monoclonal Antibodies
Biopsy
Muscles
Bethlem myopathy
laminin 1

Keywords

  • Bethlem myopathy
  • Laminin β1

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Decreased expression of laminin β1 in chromosome 21-linked Bethlem myopathy. / Merlini, L.; Villanova, M.; Sabatelli, P.; Malandrini, A.; Maraldi, N. M.

In: Neuromuscular Disorders, Vol. 9, No. 5, 01.07.1999, p. 326-329.

Research output: Contribution to journalArticle

Merlini, L. ; Villanova, M. ; Sabatelli, P. ; Malandrini, A. ; Maraldi, N. M. / Decreased expression of laminin β1 in chromosome 21-linked Bethlem myopathy. In: Neuromuscular Disorders. 1999 ; Vol. 9, No. 5. pp. 326-329.
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