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

2 Citations (Scopus)

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

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Myotonia Congenita
Myosins
Mitochondria
Myosin Heavy Chains
Muscles
Biopsy
Citrate (si)-Synthase
Myosin Light Chains
Indirect Fluorescent Antibody Technique
Hypertrophy
Protein Isoforms
Antibodies
Fiber

ASJC Scopus subject areas

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

Cite this

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

Biochemical and immunologic studies in a case of congenital myopathy with unusual morphologic features. / Biral, D.; Damiani, E.; Scarpini, E.; Bet, L.; Bresolin, N.; Moggio, M.; Pellegrini, G.; Barbieri, S.; Scarlato, G.

In: Neurology, Vol. 37, No. 10, 1987, p. 1658-1662.

Research output: Contribution to journalArticle

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, vol. 37, no. 10, pp. 1658-1662.
Biral, D. ; Damiani, E. ; Scarpini, E. ; Bet, L. ; Bresolin, N. ; Moggio, M. ; Pellegrini, G. ; Barbieri, S. ; Scarlato, G. / Biochemical and immunologic studies in a case of congenital myopathy with unusual morphologic features. In: Neurology. 1987 ; Vol. 37, No. 10. pp. 1658-1662.
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AU - Moggio, M.

AU - Pellegrini, G.

AU - Barbieri, S.

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