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NEUROLOGY 1987;37:1658
© 1987 American Academy of Neurology

Biochemical and immunologic studies in a case of congenital myopathy with unusual morphologic features

D. Biral, DScB, E. Damiani, MD, E. Scarpini, MD, L. Bet, MD, N. Bresolin, MD, M. Moggio, MD, G. Pellegrini, MD, S. Barbieri, MD and G. Scarlato, MD

From the National Research Council Unit for Muscle Biology and Physiopathology (Drs. Biral and Damiani), Institute of General Pathology, University of Padova; and the Department of Neurology (Drs. Scarpini, Bet, Bresolin, Moggio, Pellegrini, Barbieri, and Scarlato), "Dino Ferrari" Center, University of Milano, Italy.

Mitochondria and myosin were isolated from a muscle biopsy of a 9-year-old boy with an unusual congenital myopathy characterized by type I fiber uniformity, jagged Z-line, and tranverse network hypertrophy of mitochondria. Biochemical examination of isolated mitochondria showed that only citrate synthase activity was significantly reduced. Electro-phoresis of myosin heavy chains and immunoenzymatic analysis of myosin heavy and light chains with antibodies specific to either fast or slow myosins showed that only the slow-type isoform of myosin was detectable. Indirect immunofluorescence of muscle biopsy showed that all muscle fibers homogeneously expressed only the slow type of myosin.

Address correspondence and reprint requests to Dr. Scarpini, Università di Milano, Ospedale Maggiore-Policlinico, Istituto di Clinica Neurologica, Via F. Sforza n. 35, 20122 Milano, Italy.

Supported by institutional funds from the Consiglio Nazionale delle Ricerche to the NRC Unit for Muscle Biology and Physiopathology and by a grant to G.S. from the Dino Ferrari Foundation.

Received May 12, 1986. Accepted for publication in final form January 15, 1987.






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