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The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders

  • Chikako Imoto
    Correspondence
    Corresponding author. Tel.: +81-42-346-1719; fax: +81-42-346-1749
    Affiliations
    Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo 187-8502, Japan
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  • Ikuya Nonaka
    Affiliations
    Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo 187-8502, Japan
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      Abstract

      To determine the incidence of selective type 1 fiber atrophy (hypotrophy) and its possible significance in various muscle diseases of childhood, we reviewed 2212 muscle biopsies from children which we had examined in the past 20 years histochemically with ATPase staining. Type 1 fiber atrophy was seen in a variety of neuromuscular disorders, but predominantly in congenital myopathies, including all patients with congenital fiber type disproportion myopathy (20 patients), central core disease (12 patients) and multicore disease (four patients). Although type 1 fiber atrophy was not a constant feature in nemaline myopathy and myotubular myopathy, all patients with these diseases had abnormal fiber type distribution which included type 1 fiber predominance both with and without type 2B fiber deficiency. Together with abnormal fiber type distribution, type 1 fiber atrophy was a common finding in childhood neuromuscular disorders, especially congenital myopathies.

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      References

        • Dubowitz V.
        Muscle biopsy. A practical approach. 2nd ed. Bailliere Tindall, London1985
        • Brooke M.H.
        • Kaiser K.K.
        Muscle fiber types: how many and what kind?.
        Arch Neurol. 1970; 23: 369-379
        • Brooke M.H.
        • Engel W.K.
        The histographic analysis of human muscle biopsies with regard to fiber types.
        4. Childrens biopsies. Neurology. 1969; 19: 591-605
        • Kelly A.M.
        • Rubinstein N.A.
        The diversity of muscle fiber types and its origin during development.
        in: Engel A.G. Franzini-Armstrong C. Mycology. 1994: 119-133
        • Fardeau M.
        • Tomé F.M.S.
        Congenital myopathies.
        in: Engel A.G. Franzini-Armstrong C. Myology. 2nd ed. McGraw-Hill, New York1994: 1487-1532
        • Nonaka I.
        • Miyazawa M.
        • Sukegawa T.
        • Yonemoto K.
        • Kato T.
        Muscle fiber atrophy and degeneration induced by experimental immobility and hindlimb suspension.
        Int J Sports Med. 1997; 18: s292-s294
        • Zhang Y.
        • Chen H.S.
        • Khanna V.K.
        • Leon S.D.
        • Phillips M.S.
        • Schappert K.
        • et al.
        A mutation in the human ryanodine receptor gene associated with central core disease.
        Nat Genet. 1993; 5: 46-49
        • Quane K.A.
        • Healy J.M.S.
        • Keating K.E.
        • Manning B.M.
        • Couch F.J.
        • Palmucci L.M.
        • et al.
        Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.
        Nat Genet. 1993; 5: 51-55
        • Laing N.G.
        • Wilton S.D.
        • Akkari P.A.
        • Dorosz S.
        • Boundy K.
        • Kneebone C.
        • et al.
        A mutation in the α tropomyosin gene TPM3associated with autosomal dominant nemaline myopathy.
        Nat Genet. 1995; 9: 75-79
        • Pelin K.
        • Hilpelä P.
        • Donner K.
        • Sewry C.
        • Akkari P.A.
        • Wilton S.D.
        • et al.
        Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
        Proc Natl Acad Sci U.S.A. 1999; 96: 2305-2310
        • Laporte J.
        • Hu L.J.
        • Kretz C.
        • Mandel J.L.
        • Kioschis P.
        • Coy J.F.
        • et al.
        A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.
        Nat Genet. 1996; 13: 175-182