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Centronuclear myopathy heterogeneity

Distinction of clinical types by myosin isoform patterns

Departments of Neurology (Drs. Sawchak, Kula, and Shafiq) and Pathology (Dr. Sher), State University of New York, Health Science Center at Brooklyn, Brooklyn, NY; and the Department of Pathology (Dr. Norman), British Columbia's Children's Hospital, and University of British Columbia, Vancouver, BC, Canada.

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.

Address correspondence and reprint requests to Dr. Judith A. Sawchak, Department of Neurology, Box 1213, SUNY Health Science Center at Brooklyn, 450 Clarkson Avenue, Brooklyn, NY 11203.

Supported in part by NINCDS CIDA grant NS01124.

Received February 1, 1990. Accepted for publication in final form May 23,1990.

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