Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy.
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.
Doriguzzi
C
C
Paolo Periolo Centre for Neuromuscular Diseases, University of Turin, Italy.
Palmucci
L
L
Mongini
T
T
Chiadò-Piat
L
L
Restagno
G
G
Ferrone
M
M
D001706:Biopsy; D002648:Child; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics; D004576:Electromyography; D017079:Exercise Tolerance; D006801:Humans; D006984:Hypertrophy; D008297:Male; D009124:Muscle Proteins / Q000032:analysis; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009212:Myoglobinuria / Q000209:etiology*; D016133:Polymerase Chain Reaction; D012206:Rhabdomyolysis / Q000209:etiology; D017384:Sequence Deletion
D016189:Dystrophin; D009124:Muscle Proteins