Journal of Neurology

, Volume 239, Issue 2, pp 76–78 | Cite as

Dystrophin deficiency in a case of congenital myopathy

  • A. Prelle
  • R. Medori
  • M. Moggio
  • H. W. Chan
  • A. Gallanti
  • G. Scarlato
  • E. Bonilla
Original Communications


We studied a 5-year-old boy who had the “floppy infant syndrome” and a dystrophic pattern on muscle biopsy. According to the clinical presentation and the histopathological findings the diagnosis of congenital muscular dystrophy with associated intellectual retardation was made. Immunohistochemical and immunoblot studies using anti-dystrophin antibodies showed complete absence of the protein in the patient's muscle. DNA analysis using cDNA probes showed a deletion at the 5′ end of the dystrophin gene. Our observations on this patient suggest a new phenotypical variant of Duchenne muscular dystrophy.

Key words

Congenital muscular dystrophy Dystrophin Duchenne muscular dystrophy 


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  1. 1.
    Arikawa E, Arahata K, Nonaka I, Sugita H (1990) Dystrophin analysis in congenital muscular dystrophin. Neurology 40 [Suppl 1]:206Google Scholar
  2. 2.
    Bonilla E, Samitt CE, Miranda AF, Hays AP, Salviati G, DiMauro S, Kunkel LM, Hoffman EP, Rowland LP (1988) Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell 54:447–452Google Scholar
  3. 3.
    Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT (1988) Deletion screening of the DMD locus via multiple DNA amplification. Nucleic Acids Res 16:11141–11156Google Scholar
  4. 4.
    Chamberlain JS, Gibbs RA, Ranier JE, Caskey CT (1990) Multiplex PCR for the diagnosis of DMD. In: Innis M, Gelfand D, Sninsky J, White T (eds) PCR protocols: a guide to methods and application. Academic Press, Orlando, pp 272–281Google Scholar
  5. 5.
    Chelly J, Kaplan JC, Maire P, Gautron S, Kahn A (1988) Transcription of the dystrophin gene in human muscle and non-muscle tissues. Nature 333:858–860Google Scholar
  6. 6.
    Chelly J, Hamard G, Koulakoff A, Kaplan JC, Kahn A, Netter YB (1990) Dystrophin gene transcribed from different promoters in neuronal and glial cells. Nature 344:64–65Google Scholar
  7. 7.
    Dubowitz V (1985) Muscle biopsy: a practical approach, 2nd edn. Baillière Tindall, ParisGoogle Scholar
  8. 8.
    Engel AG, Banker BQ (1986) Myology, vol II. McGraw-Hill, New YorkGoogle Scholar
  9. 9.
    Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6–13Google Scholar
  10. 10.
    Forrest SN, Cross SG, Speer A (1987) Preferential deletion of exons in Duchenne and Becker muscular dystrophy. Nature 329:638–639Google Scholar
  11. 11.
    Hoffman EP, Brown RH, Kunkel LM (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51:919–928Google Scholar
  12. 12.
    Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterson R, Brooke M, Specht L, Kupsky W, Chamberlain J, Caskey T, Shapiro F, Kunkel LM (1988) Characteristic of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 318:1363–1368Google Scholar
  13. 13.
    Hoffman EP, Kunkel LM, Angelini C, Clarke A, Johnson M, Harris JB (1989) Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology 39:1011–1017Google Scholar
  14. 14.
    Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM (1987) Complete cloning of the DMD cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509–517Google Scholar
  15. 15.
    Medory R, Brooke MH, Waterson RAH (1989) Genetic abnormalities in Duchenne and Becker dystrophies: clinical correlation. Neurology 39:461–465Google Scholar
  16. 16.
    Medori R, Brooke M, Waterston R (1989) Two dissimilar brothers with Becker dystrophy have an identical genetic defect. Neurology 39:1493–1496Google Scholar
  17. 17.
    Monaco AP, Bertelson CJ, Liechti-Gallat S (1988) An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2:90–95Google Scholar
  18. 18.
    Nudel U, Robzyk K, Yaffe D (1988) Expression of the putative DMD gene in differentiated myogenic cell cultures and in the brain. Nature 331:635–638Google Scholar
  19. 19.
    Nudel U, Zuk D, Einat P, Zeelon E, Levy Z, Neuman S, Yaffe D (1989) Duchenne muscular dystrophy product is not identical in muscle and brain. Nature 337:76–78Google Scholar
  20. 20.
    Rowland LP (1988) Clinical concepts of Duchenne muscular dystrophy. Brain 111:479–495Google Scholar
  21. 21.
    Rowland LP (1988) Dystrophin: a triumph of reverse genetics and the end of the beginning. N Engl J Med 318:1392–1394Google Scholar

Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • A. Prelle
    • 1
  • R. Medori
    • 2
  • M. Moggio
    • 1
  • H. W. Chan
    • 2
  • A. Gallanti
    • 1
  • G. Scarlato
    • 1
  • E. Bonilla
    • 2
  1. 1.Istituto di Clinica Neurologica, Centro Dino FerrariUniversita di MilanoMilanoItaly
  2. 2.Department of NeurologyColumbia UniversityNew YorkUSA

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