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    Neurology. 1991 Jan;41(1):135-40.

    Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns.

    Sawchak JA, Sher JH, Norman MG, Kula RW, Shafiq SA.

    Source

    Department of Neurology, SUNY Health Science Center, Brooklyn 11203.

    Abstract

    We studied muscles from 3 patients with centronuclear myopathy (CNM) by immunocytochemistry using myosin heavy chain (MHC)-specific monoclonal antibodies to determine whether subtypes of CNM express prenatal MHC and to assess if there is an arrest in development of these muscles. Muscle from a woman with childhood-onset CNM did not express prenatal MHC, yet this prenatal MHC was strongly expressed in the muscle fibers of 2 brothers with X-linked CNM. This finding represents the 1st immunocytochemical evidence of the expression of a prenatal myosin isoform in nonregenerating postnatal human muscle and suggests that the X-linked form of CNM differs from the other types because of a true arrest in maturation of the muscle.

    PMID:
    1824643
    [PubMed - indexed for MEDLINE]

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