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

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

doi:10.1016/S0960-8966(99)00022-X

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

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

Istituti Ortopedici Rizzoli

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	326-329
Number of pages	4
Journal	Neuromuscular Disorders
Volume	9
Issue number	5
DOIs	https://doi.org/10.1016/S0960-8966(99)00022-X
Publication status	Published - Jul 1 1999

Keywords

Bethlem myopathy
Laminin β1

ASJC Scopus subject areas

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

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10.1016/S0960-8966(99)00022-X

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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.",

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T1 - Decreased expression of laminin β1 in chromosome 21-linked Bethlem myopathy

AU - Merlini, L.

AU - Villanova, M.

AU - Sabatelli, P.

AU - Malandrini, A.

AU - Maraldi, N. M.

PY - 1999/7/1

Y1 - 1999/7/1

N2 - 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.

AB - 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.

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KW - Laminin β1

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

Abstract

Keywords

ASJC Scopus subject areas

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