Clinical and molecular overlap between myopathies and inherited connective tissue diseases

N.C. Voermans, c.g. Bonnemann, P.A.J.B.M. Huijing, B.C. Hamel, T.H. van Kuppevelt, A. de Haan, J. Schalkwijk, B.G. van Engelen, G.J. Jenniskens

    Research output: Contribution to JournalArticleAcademicpeer-review

    Abstract

    This review presents an overview of myopathies and inherited connective tissue disorders that are caused by defects in or deficiencies of molecules within the extracellular matrix (ECM). We will cover the myopathies caused by defects in transmembrane protein complexes (dystroglycan, sarcoglycan, and integrins), laminin, and collagens (collagens VI, XIII, and XV). Clinical characteristics of several of these myopathies imply skin and joint features. We subsequently describe the inherited connective tissue disorders that are characterized by mild to moderate muscle involvement in addition to the dermal, vascular, or articular symptoms. These disorders are caused by defects of matrix-embedded ECM molecules that are also present within muscle (collagens I, III, V, IX, lysylhydroxylase, tenascin, fibrillin, fibulin, elastin, and perlecan). By focussing on the structure and function of these ECM molecules, we aim to point out the clinical and molecular overlap between the groups of disorders. We argue that clinicians and researchers dealing with myopathies and inherited connective tissue disorders should be aware of this overlap. Only a multi-disciplinary approach will allow full recognition of the wide variety of symptoms present in the spectrum of ECM defects, which has important implications for scientific research, diagnosis, and for the treatment of these disorders. © 2008 Elsevier B.V.
    Original languageEnglish
    Pages (from-to)843-856
    JournalNeuromuscular Disorders
    Volume18
    Issue number11
    DOIs
    Publication statusPublished - 2008

    Fingerprint

    Connective Tissue Diseases
    Muscular Diseases
    Extracellular Matrix
    Connective Tissue
    Collagen
    Joints
    Sarcoglycans
    Dystroglycans
    Tenascin
    Muscles
    Skin
    Elastin
    Laminin
    Integrins
    Blood Vessels
    Research Personnel
    Research
    Proteins

    Cite this

    Voermans, N. C., Bonnemann, C. G., Huijing, P. A. J. B. M., Hamel, B. C., van Kuppevelt, T. H., de Haan, A., ... Jenniskens, G. J. (2008). Clinical and molecular overlap between myopathies and inherited connective tissue diseases. Neuromuscular Disorders, 18(11), 843-856. https://doi.org/10.1016/j.nmd.2008.05.017
    Voermans, N.C. ; Bonnemann, c.g. ; Huijing, P.A.J.B.M. ; Hamel, B.C. ; van Kuppevelt, T.H. ; de Haan, A. ; Schalkwijk, J. ; van Engelen, B.G. ; Jenniskens, G.J. / Clinical and molecular overlap between myopathies and inherited connective tissue diseases. In: Neuromuscular Disorders. 2008 ; Vol. 18, No. 11. pp. 843-856.
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    abstract = "This review presents an overview of myopathies and inherited connective tissue disorders that are caused by defects in or deficiencies of molecules within the extracellular matrix (ECM). We will cover the myopathies caused by defects in transmembrane protein complexes (dystroglycan, sarcoglycan, and integrins), laminin, and collagens (collagens VI, XIII, and XV). Clinical characteristics of several of these myopathies imply skin and joint features. We subsequently describe the inherited connective tissue disorders that are characterized by mild to moderate muscle involvement in addition to the dermal, vascular, or articular symptoms. These disorders are caused by defects of matrix-embedded ECM molecules that are also present within muscle (collagens I, III, V, IX, lysylhydroxylase, tenascin, fibrillin, fibulin, elastin, and perlecan). By focussing on the structure and function of these ECM molecules, we aim to point out the clinical and molecular overlap between the groups of disorders. We argue that clinicians and researchers dealing with myopathies and inherited connective tissue disorders should be aware of this overlap. Only a multi-disciplinary approach will allow full recognition of the wide variety of symptoms present in the spectrum of ECM defects, which has important implications for scientific research, diagnosis, and for the treatment of these disorders. {\circledC} 2008 Elsevier B.V.",
    author = "N.C. Voermans and c.g. Bonnemann and P.A.J.B.M. Huijing and B.C. Hamel and {van Kuppevelt}, T.H. and {de Haan}, A. and J. Schalkwijk and {van Engelen}, B.G. and G.J. Jenniskens",
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    Voermans, NC, Bonnemann, CG, Huijing, PAJBM, Hamel, BC, van Kuppevelt, TH, de Haan, A, Schalkwijk, J, van Engelen, BG & Jenniskens, GJ 2008, 'Clinical and molecular overlap between myopathies and inherited connective tissue diseases' Neuromuscular Disorders, vol. 18, no. 11, pp. 843-856. https://doi.org/10.1016/j.nmd.2008.05.017

    Clinical and molecular overlap between myopathies and inherited connective tissue diseases. / Voermans, N.C.; Bonnemann, c.g.; Huijing, P.A.J.B.M.; Hamel, B.C.; van Kuppevelt, T.H.; de Haan, A.; Schalkwijk, J.; van Engelen, B.G.; Jenniskens, G.J.

    In: Neuromuscular Disorders, Vol. 18, No. 11, 2008, p. 843-856.

    Research output: Contribution to JournalArticleAcademicpeer-review

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    AU - Bonnemann, c.g.

    AU - Huijing, P.A.J.B.M.

    AU - Hamel, B.C.

    AU - van Kuppevelt, T.H.

    AU - de Haan, A.

    AU - Schalkwijk, J.

    AU - van Engelen, B.G.

    AU - Jenniskens, G.J.

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    AB - This review presents an overview of myopathies and inherited connective tissue disorders that are caused by defects in or deficiencies of molecules within the extracellular matrix (ECM). We will cover the myopathies caused by defects in transmembrane protein complexes (dystroglycan, sarcoglycan, and integrins), laminin, and collagens (collagens VI, XIII, and XV). Clinical characteristics of several of these myopathies imply skin and joint features. We subsequently describe the inherited connective tissue disorders that are characterized by mild to moderate muscle involvement in addition to the dermal, vascular, or articular symptoms. These disorders are caused by defects of matrix-embedded ECM molecules that are also present within muscle (collagens I, III, V, IX, lysylhydroxylase, tenascin, fibrillin, fibulin, elastin, and perlecan). By focussing on the structure and function of these ECM molecules, we aim to point out the clinical and molecular overlap between the groups of disorders. We argue that clinicians and researchers dealing with myopathies and inherited connective tissue disorders should be aware of this overlap. Only a multi-disciplinary approach will allow full recognition of the wide variety of symptoms present in the spectrum of ECM defects, which has important implications for scientific research, diagnosis, and for the treatment of these disorders. © 2008 Elsevier B.V.

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    EP - 856

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