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[Polysaccharide amylopectin-type storage myopathy].

E E Calore1, J F Pellissier, D Figarella-Branger

  • 1Service d'Anatomie Pathologique et de Neuropathologie, Hôpital de la Timone, Marseille.

Revue Neurologique
|January 1, 1992
PubMed
Summary
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This study describes a late-onset polysaccharide myopathy causing progressive muscle weakness. Abnormal mitochondria and glycogen-like deposits were found, distinct from other glycogen storage diseases.

Area of Science:

  • Neurology
  • Muscle Biology
  • Biochemistry

Background:

  • Polysaccharide myopathies are rare neuromuscular disorders.
  • Distinguishing between various glycogen storage diseases is crucial for diagnosis.

Observation:

  • A late-onset myopathy presented with progressive limb girdle muscle weakness.
  • Muscle biopsy revealed vacuolar myopathy with PAS-positive, diastase-resistant deposits in type 1 fibers.
  • Electron microscopy showed filamentous material resembling long-chain glycogen, with abnormal mitochondria and paracrystalline inclusions.

Findings:

  • Muscle glycogen levels and key enzyme activities were normal.
  • The observed deposits were characterized as amylopectin-like.
  • Mitochondrial dysfunction is hypothesized to contribute to phosphofructokinase inactivation.

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Implications:

  • This case expands the understanding of polysaccharide myopathy phenotypes.
  • It highlights the importance of differentiating this condition from other glycogenoses.
  • Further research into mitochondrial dysfunction's role in myopathies is warranted.