Sporadic distal myopathy with early adult onset: Study of muscle biopsies and muscle cell cultures

Tiziana Mongini, Carlo Doriguzzi, Laura Palmucci, Bianca Potto, Enrica Arnaudo, Nereo Bresolin

Research output: Contribution to journalArticlepeer-review

Abstract

A 28-year-old man with negative family history for neuromuscular diseases showed a distal myopathy. Creatine kinase was slightly increased. Two muscle biopsies were performed. The first showed myopathic features, rimmed vacuoles in a limited area and increase of free glycogen; the second showed only nonspecific pathological findings, demonstrating the patchy nature of vacuolar alterations. Biochemical investigation of the glycogenolytic and glycolytic pathways in muscle homogenates ruled out enzyme deficiencies. Muscle cell cultures developed normally.

Original languageEnglish
Pages (from-to)287-290
Number of pages4
JournalEuropean Neurology
Volume29
Issue number5
DOIs
Publication statusPublished - 1989

Keywords

  • Muscle cell culture
  • Muscle glycogenolysis and glycolysis
  • Rimmed vacuoles
  • Sporadic distal myopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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