Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy

J Neurol. 1993 May;240(5):269-71. doi: 10.1007/BF00838159.

Abstract

A 9-year-old boy complained of exertional myalgias and described two episodes of myoglobinuria. His family history was negative for neuromuscular diseases. The findings of a neurological examination were normal. Serum creatine kinase was increased, ECG was normal, EMG showed slight "myopathic" signs. Muscle biopsy disclosed a small group of basophilic fibres as the only abnormality. Muscle glycolytic enzymes and carnitine palmitoyl transferase were normal. Immunoblotting using antidystrophin antibody demonstrated a protein with low molecular weight. Genomic DNA analysis showed a deletion of the HindIII fragments spanning from exon 45 to exon 48. Eight years after the first observation the patient has diffuse muscle hypertrophy without muscle weakness.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Child
  • DNA Mutational Analysis
  • Dystrophin / genetics
  • Electromyography
  • Exercise Tolerance*
  • Humans
  • Hypertrophy
  • Male
  • Muscle Proteins / analysis
  • Muscles / pathology
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / genetics
  • Myoglobinuria / etiology*
  • Polymerase Chain Reaction
  • Rhabdomyolysis / etiology
  • Sequence Deletion

Substances

  • Dystrophin
  • Muscle Proteins

Grant support