Familial neuromuscular disease with tubular aggregates

S. Pierobon-Bormioli, M. Armani, S. P. Ringel, C. Angelini, L. Vergani, R. Betto, G. Salviati

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Abstract

We have studied four members of a family in which five individuals of both sexes in three generations have mild weakness and muscle aching. Serum creatine kinase (CK) and/or aldolase were mildly to moderately elevated. Tubular aggregates were present in all patients in all fiber types. Type 1 fiber predominance and type 2 hypotrophy or atrophy was noted in three biopsies. Fiber splitting was prominent in two cases. Electron microscopic studies confirm that the tubular aggregates originate from muscle sarcoplasmic reticulum (SR). The presence of T tubules making contacts with some tubules inside the collection of tubular aggregates is suggestive of their derivation from terminal cisternae.

Original languageEnglish
Pages (from-to)291-298
Number of pages8
JournalMuscle and Nerve
Volume8
Issue number4
Publication statusPublished - 1985

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ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Pierobon-Bormioli, S., Armani, M., Ringel, S. P., Angelini, C., Vergani, L., Betto, R., & Salviati, G. (1985). Familial neuromuscular disease with tubular aggregates. Muscle and Nerve, 8(4), 291-298.