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 theHindIII fragments spanning from exon 45 to exon 48. Eight years after the first observation the patient has diffuse muscle hypertrophy without muscle weakness.
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References
Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM (1991) Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 49:54–67
Bonilla E, Minetti C, Chang HW, Medori R, Cordone G, DiMauro S (1991) Manifestazioni cliniche delle miopatie dovute a delezioni/mutazioni del gene della distrofina. Minerva Pediatr 43:67–70
Bulfield G, Siller WG, Wight PA, Moore KJ (1984) X chromosome-linked muscular dystrophy (mdx) in the mouse. Proc Natl Acad Sci USA 81:1189–1192
Bush A, Dubowitz V (1991) Fatal rhabdomyolysis complicating general anaesthesia in a child with Becker muscular dystrophy. Neuromusc Disord 1:201–204
Carpenter JL, Hoffman EP, Romanul FCA, Kunkel LM, Rosales RK, Ma NSF, Dasbach JJ, Rae JF, Moore FM, McAfec MB, Pearce LK (1989) Feline muscular dystrophy with dystrophin deficiency. Am J Pathol 135:909–919
Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16:11141–11156
Doriguzzi C, Palmucci L, Mongini T, Arnaudo E, Bet L, Bresolin N (1988) Body building and myoglobinuria: report of three cases. BMJ 296:826–827
Doriguzzi C, Palmucci L, Mongini T (1990) Body building and rhabdomyolysis. J Neurol Neurosurg Psychiatry 53:806–807
Gospe SM, Lazaro RP, Lava NS, Grootscholten PM, Scott MO, Fischbeck KH (1989) Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. Neurology 39:1277–1280
Hoffman EP, Brown RH, Kunkel LM (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51:919–928
Hoffman EP, Kunkel LM, Angelini C, Clarke A, Johnson M, Harris JB (1989) Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology 39:1011–1017
Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Müller CR, Lindlöf M, Kariainen H, Chapelle A de la, Kiuru A, Savontaus M-L, Gilgenkrantz H, Récan D, Chelly J, Kaplan JC, Covone AE, Archidiacono N, Romeo G, Liechti-Gallati S, Schneider V, Braga S, Moser H, Darras BT, Murphy P, Francke U, Chen JD, Morgan G, Denton M, Greenberg CR, Wrogemann KJ, Blonden LAJ, Paassen HMB van, Ommen GJB van, Kunkel LM (1989) The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 45:498–506
Laemmli UK (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680–685
Mongini T, Doriguzzi C, Palmucci L, Chiadò-Piat L, Maniscalco M, Schiffer D (1991) Myoglobinuria and carnitine-palmityl transferase in father and son. J Neurol 238:323–324
Palmucci L, Doriguzzi C, Mongini T, Chiadò-Piat L, Restagno G, Carbonara A, Paolillo V (1992) Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy. J Neurol Sci 111:218–221
Penn A (1986) Myoglobinuria. In: Engel AG, Banker BQ (eds) Myology. Basic and clinical. McGraw-Hill, New York, pp 1785–1805
Prior TW, Blasco PA, Dove JL, Leshner RT, Gruemer HD (1989) Use of DNA probes in detecting carriers of Duchenne muscular dystrophy: selected case studies. Clin Chem 35:679–683
Saiki RK, Gelfand DH, Stoffel S, Sharf SJ, Higuchi R, Horn GT, Erlich HA (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487–491
Tonin P, Lewis P, Servidei S, DiMauro S (1990) Metabolic causes of myoglobinuria. Ann Neurol 27:181–185
Towbin H, Staehelin T, Gordon J (1979) Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose: procedure and some applications. Proc Natl Acad Sci USA 76:4350–4354
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Doriguzzi, C., Palmucci, L., Mongini, T. et al. Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy. J Neurol 240, 269–271 (1993). https://doi.org/10.1007/BF00838159
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DOI: https://doi.org/10.1007/BF00838159