title: Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy.
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.
authors.affiliation: Paolo Periolo Centre for Neuromuscular Diseases, University of Turin, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Doriguzzi
authors.forename: L
authors.initials: L
authors.lastname: Palmucci
authors.forename: T
authors.initials: T
authors.lastname: Mongini
authors.forename: L
authors.initials: L
authors.lastname: Chiadò-Piat
authors.forename: G
authors.initials: G
authors.lastname: Restagno
authors.forename: M
authors.initials: M
authors.lastname: Ferrone
mesh_terms: 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
chemical_list: D016189:Dystrophin; D009124:Muscle Proteins