Spheroid body myopathy revisited

Hans H. Goebel, Anthony N. D'Agostino, Jacob Wilson, George Cole, Tatiana Foroud, Daniel Koller, Martin Farlow, Biagio Azzarelli, Jans Muller

Research output: Contribution to journalArticle

22 Scopus citations

Abstract

Having reported spheroid body myopathy from Indiana (IN) inherited in an autosomal-dominant fashion several years ago, we now describe additional findings from the Oregon branch - briefly recorded earlier - and confirm earlier studies in another clinically affected IN member of this kinship demonstrating identical spheroid bodies within the myopathic muscle specimens. The spheroid bodies also contained increased amounts of desmin, α-B crystallin, and ubiquitin within muscle fibers. Our studies now have established that spheroid body myopathy is a member of the growing family of desminopathic neuromuscular conditions.

Original languageEnglish (US)
Pages (from-to)1127-1136
Number of pages10
JournalMuscle and Nerve
Volume20
Issue number9
DOIs
StatePublished - Sep 2 1997

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Keywords

  • α-B crystallin
  • Autosomal dominant
  • Desmin
  • Familial myopathy
  • Immunohistochemistry
  • Spheroid bodies
  • Ubiquitin

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Goebel, H. H., D'Agostino, A. N., Wilson, J., Cole, G., Foroud, T., Koller, D., Farlow, M., Azzarelli, B., & Muller, J. (1997). Spheroid body myopathy revisited. Muscle and Nerve, 20(9), 1127-1136. https://doi.org/10.1002/(SICI)1097-4598(199709)20:9<1127::AID-MUS6>3.0.CO;2-A