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. 1990 Mar;85(3):613–619. doi: 10.1172/JCI114482

Improved diagnosis of Duchenne/Becker muscular dystrophy.

A H Beggs 1, L M Kunkel 1
PMCID: PMC296473  PMID: 1968908

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Arahata K., Hoffman E. P., Kunkel L. M., Ishiura S., Tsukahara T., Ishihara T., Sunohara N., Nonaka I., Ozawa E., Sugita H. Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses. Proc Natl Acad Sci U S A. 1989 Sep;86(18):7154–7158. doi: 10.1073/pnas.86.18.7154. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Arahata K., Ishiura S., Ishiguro T., Tsukahara T., Suhara Y., Eguchi C., Ishihara T., Nonaka I., Ozawa E., Sugita H. Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature. 1988 Jun 30;333(6176):861–863. doi: 10.1038/333861a0. [DOI] [PubMed] [Google Scholar]
  3. Bakker E., Van Broeckhoven C., Bonten E. J., van de Vooren M. J., Veenema H., Van Hul W., Van Ommen G. J., Vandenberghe A., Pearson P. L. Germline mosaicism and Duchenne muscular dystrophy mutations. Nature. 1987 Oct 8;329(6139):554–556. doi: 10.1038/329554a0. [DOI] [PubMed] [Google Scholar]
  4. Bonilla E., Samitt C. E., Miranda A. F., Hays A. P., Salviati G., DiMauro S., Kunkel L. M., Hoffman E. P., Rowland L. P. Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell. 1988 Aug 12;54(4):447–452. doi: 10.1016/0092-8674(88)90065-7. [DOI] [PubMed] [Google Scholar]
  5. Boyd Y., Buckle V. J. Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin Genet. 1986 Feb;29(2):108–115. doi: 10.1111/j.1399-0004.1986.tb01232.x. [DOI] [PubMed] [Google Scholar]
  6. Brooke M. H., Fenichel G. M., Griggs R. C., Mendell J. R., Moxley R., Miller J. P., Province M. A. Clinical investigation in Duchenne dystrophy: 2. Determination of the "power" of therapeutic trials based on the natural history. Muscle Nerve. 1983 Feb;6(2):91–103. doi: 10.1002/mus.880060204. [DOI] [PubMed] [Google Scholar]
  7. Burghes A. H., Logan C., Hu X., Belfall B., Worton R. G., Ray P. N. A cDNA clone from the Duchenne/Becker muscular dystrophy gene. 1987 Jul 30-Aug 5Nature. 328(6129):434–437. doi: 10.1038/328434a0. [DOI] [PubMed] [Google Scholar]
  8. Burmeister M., Monaco A. P., Gillard E. F., van Ommen G. J., Affara N. A., Ferguson-Smith M. A., Kunkel L. M., Lehrach H. A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics. 1988 Apr;2(3):189–202. doi: 10.1016/0888-7543(88)90002-x. [DOI] [PubMed] [Google Scholar]
  9. Chamberlain J. S., Gibbs R. A., Ranier J. E., Nguyen P. N., Caskey C. T. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988 Dec 9;16(23):11141–11156. doi: 10.1093/nar/16.23.11141. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Darras B. T., Francke U. A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature. 1987 Oct 8;329(6139):556–558. doi: 10.1038/329556a0. [DOI] [PubMed] [Google Scholar]
  11. Darras B. T., Koenig M., Kunkel L. M., Francke U. Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Am J Med Genet. 1988 Mar;29(3):713–726. doi: 10.1002/ajmg.1320290341. [DOI] [PubMed] [Google Scholar]
  12. Davies K. E., Pearson P. L., Harper P. S., Murray J. M., O'Brien T., Sarfarazi M., Williamson R. Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Res. 1983 Apr 25;11(8):2303–2312. doi: 10.1093/nar/11.8.2303. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Davison M. D., Critchley D. R. alpha-Actinins and the DMD protein contain spectrin-like repeats. Cell. 1988 Jan 29;52(2):159–160. doi: 10.1016/0092-8674(88)90503-x. [DOI] [PubMed] [Google Scholar]
  14. Fischbeck K. H., Ritter A. W., Tirschwell D. L., Kunkel L. M., Bertelson C. J., Monaco A. P., Hejtmancik J. F., Boehm C., Ionasescu V., Ionasescu R. Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy. Lancet. 1986 Jul 12;2(8498):104–104. doi: 10.1016/s0140-6736(86)91634-x. [DOI] [PubMed] [Google Scholar]
  15. Forrest S. M., Cross G. S., Speer A., Gardner-Medwin D., Burn J., Davies K. E. Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature. 1987 Oct 15;329(6140):638–640. doi: 10.1038/329638a0. [DOI] [PubMed] [Google Scholar]
  16. Francke U., Ochs H. D., de Martinville B., Giacalone J., Lindgren V., Distèche C., Pagon R. A., Hofker M. H., van Ommen G. J., Pearson P. L. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet. 1985 Mar;37(2):250–267. [PMC free article] [PubMed] [Google Scholar]
  17. Hammonds R. G., Jr Protein sequence of DMD gene is related to actin-binding domain of alpha-actinin. Cell. 1987 Oct 9;51(1):1–1. doi: 10.1016/0092-8674(87)90002-x. [DOI] [PubMed] [Google Scholar]
  18. Hoffman E. P., Brown R. H., Jr, Kunkel L. M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24;51(6):919–928. doi: 10.1016/0092-8674(87)90579-4. [DOI] [PubMed] [Google Scholar]
  19. Hoffman E. P., Fischbeck K. H., Brown R. H., Johnson M., Medori R., Loike J. D., Harris J. B., Waterston R., Brooke M., Specht L. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med. 1988 May 26;318(21):1363–1368. doi: 10.1056/NEJM198805263182104. [DOI] [PubMed] [Google Scholar]
  20. Hoffman E. P., Kunkel L. M., Angelini C., Clarke A., Johnson M., Harris J. B. Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology. 1989 Aug;39(8):1011–1017. doi: 10.1212/wnl.39.8.1011. [DOI] [PubMed] [Google Scholar]
  21. Hu X. Y., Burghes A. H., Ray P. N., Thompson M. W., Murphy E. G., Worton R. G. Partial gene duplication in Duchenne and Becker muscular dystrophies. J Med Genet. 1988 Jun;25(6):369–376. doi: 10.1136/jmg.25.6.369. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Hurko O., Hoffman E. P., McKee L., Johns D. R., Kunkel L. M. Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier. Am J Hum Genet. 1989 Jun;44(6):820–826. [PMC free article] [PubMed] [Google Scholar]
  23. Kingston H. M., Sarfarazi M., Thomas N. S., Harper P. S. Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences. Hum Genet. 1984;67(1):6–17. doi: 10.1007/BF00270551. [DOI] [PubMed] [Google Scholar]
  24. Koenig M., Beggs A. H., Moyer M., Scherpf S., Heindrich K., Bettecken T., Meng G., Müller C. R., Lindlöf M., Kaariainen H. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet. 1989 Oct;45(4):498–506. [PMC free article] [PubMed] [Google Scholar]
  25. Koenig M., Hoffman E. P., Bertelson C. J., Monaco A. P., Feener C., Kunkel L. M. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987 Jul 31;50(3):509–517. doi: 10.1016/0092-8674(87)90504-6. [DOI] [PubMed] [Google Scholar]
  26. Koenig M., Monaco A. P., Kunkel L. M. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 1988 Apr 22;53(2):219–228. doi: 10.1016/0092-8674(88)90383-2. [DOI] [PubMed] [Google Scholar]
  27. Kunkel L. M., Hejtmancik J. F., Caskey C. T., Speer A., Monaco A. P., Middlesworth W., Colletti C. A., Bertelson C., Müller U., Bresnan M. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature. 1986 Jul 3;322(6074):73–77. doi: 10.1038/322073a0. [DOI] [PubMed] [Google Scholar]
  28. Malhotra S. B., Hart K. A., Klamut H. J., Thomas N. S., Bodrug S. E., Burghes A. H., Bobrow M., Harper P. S., Thompson M. W., Ray P. N. Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science. 1988 Nov 4;242(4879):755–759. doi: 10.1126/science.3055295. [DOI] [PubMed] [Google Scholar]
  29. Monaco A. P., Bertelson C. J., Colletti-Feener C., Kunkel L. M. Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy. Hum Genet. 1987 Mar;75(3):221–227. doi: 10.1007/BF00281063. [DOI] [PubMed] [Google Scholar]
  30. Monaco A. P., Bertelson C. J., Liechti-Gallati S., Moser H., Kunkel L. M. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988 Jan;2(1):90–95. doi: 10.1016/0888-7543(88)90113-9. [DOI] [PubMed] [Google Scholar]
  31. Monaco A. P., Bertelson C. J., Middlesworth W., Colletti C. A., Aldridge J., Fischbeck K. H., Bartlett R., Pericak-Vance M. A., Roses A. D., Kunkel L. M. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. 1985 Aug 29-Sep 4Nature. 316(6031):842–845. doi: 10.1038/316842a0. [DOI] [PubMed] [Google Scholar]
  32. Monaco A. P., Neve R. L., Colletti-Feener C., Bertelson C. J., Kurnit D. M., Kunkel L. M. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature. 1986 Oct 16;323(6089):646–650. doi: 10.1038/323646a0. [DOI] [PubMed] [Google Scholar]
  33. Moser H. Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention. Hum Genet. 1984;66(1):17–40. doi: 10.1007/BF00275183. [DOI] [PubMed] [Google Scholar]
  34. Ray P. N., Belfall B., Duff C., Logan C., Kean V., Thompson M. W., Sylvester J. E., Gorski J. L., Schmickel R. D., Worton R. G. Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature. 1985 Dec 19;318(6047):672–675. doi: 10.1038/318672a0. [DOI] [PubMed] [Google Scholar]
  35. Roberts R. G., Cole C. G., Hart K. A., Bobrow M., Bentley D. R. Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy. Nucleic Acids Res. 1989 Jan 25;17(2):811–811. doi: 10.1093/nar/17.2.811. [DOI] [PMC free article] [PubMed] [Google Scholar]
  36. Saiki R. K., Gelfand D. H., Stoffel S., Scharf S. J., Higuchi R., Horn G. T., Mullis K. B., Erlich H. A. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988 Jan 29;239(4839):487–491. doi: 10.1126/science.2448875. [DOI] [PubMed] [Google Scholar]
  37. Watkins S. C., Hoffman E. P., Slayter H. S., Kunkel L. M. Immunoelectron microscopic localization of dystrophin in myofibres. Nature. 1988 Jun 30;333(6176):863–866. doi: 10.1038/333863a0. [DOI] [PubMed] [Google Scholar]
  38. Weber J. L., May P. E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989 Mar;44(3):388–396. [PMC free article] [PubMed] [Google Scholar]
  39. Zatz M., Passos-Bueno M. R., Rapaport D. Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance. Am J Med Genet. 1989 Mar;32(3):407–410. doi: 10.1002/ajmg.1320320328. [DOI] [PubMed] [Google Scholar]
  40. Zubrzycka-Gaarn E. E., Bulman D. E., Karpati G., Burghes A. H., Belfall B., Klamut H. J., Talbot J., Hodges R. S., Ray P. N., Worton R. G. The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature. 1988 Jun 2;333(6172):466–469. doi: 10.1038/333466a0. [DOI] [PubMed] [Google Scholar]
  41. van Ommen G. J., Verkerk J. M., Hofker M. H., Monaco A. P., Kunkel L. M., Ray P., Worton R., Wieringa B., Bakker E., Pearson P. L. A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell. 1986 Nov 21;47(4):499–504. doi: 10.1016/0092-8674(86)90614-8. [DOI] [PubMed] [Google Scholar]

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