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Nebulin is normally expressed in nemaline myopathy

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Abstract

Since the nebulin gene is located in the candidate gene locus of autosomal recessive nemaline myopathy, 2q21.2–q22, we examined five muscle biopsy specimens with monoclonal and polyclonal antibodies against nebulin in combination with the modified Gomori trichrome stain. We were able to demonstrate immunohistochemically that there was no abnormality in nebulin in the muscle fibers both with and without nemaline bodies. Although the molecular weight of nebulin was normal, it was slightly reduced in amount on immunoblotting.

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Authors and Affiliations

  1. Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo 187-8502, Japan Tel.: +81-423-46-1719, Fax: +81-423-46-1749, , , , , , JP

    C. Imoto & Ikuya Nonaka

  2. Department of Laboratory Medicine, National Center Hospital for Mental, Nervous and Muscular Disorders, NCNP, Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan, , , , , , JP

    Mitsuru Kawai

  3. Department of Biology, Faculty of Science, Chiba University, Yayoi-cho, Chiba 263-8522, Japan, , , , , , JP

    Sumiko Kimura

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  1. C. Imoto
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  2. Sumiko Kimura
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  3. Mitsuru Kawai
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  4. Ikuya Nonaka
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Received: 8 June 1998 / Accepted: 4 November 1998

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Imoto, C., Kimura, S., Kawai, M. et al. Nebulin is normally expressed in nemaline myopathy. Acta Neuropathol 97, 433–436 (1999). https://doi.org/10.1007/s004010051011

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  • DOI: https://doi.org/10.1007/s004010051011

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