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

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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)1658-1662
Number of pages5
JournalNeurology
Volume37
Issue number10
Publication statusPublished - 1987

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

Fingerprint Dive into the research topics of 'Biochemical and immunologic studies in a case of congenital myopathy with unusual morphologic features'. Together they form a unique fingerprint.

  • Cite this

    Biral, D., Damiani, E., Scarpini, E., Bet, L., Bresolin, N., Moggio, M., Pellegrini, G., Barbieri, S., & Scarlato, G. (1987). Biochemical and immunologic studies in a case of congenital myopathy with unusual morphologic features. Neurology, 37(10), 1658-1662.