Skip to main content
NCBI home page
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1995 Nov;59(5):552–554. doi: 10.1136/jnnp.59.5.552

Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion.

D Malapert 1, D Recan 1, F Leturcq 1, J D Degos 1, R K Gherardi 1
PMCID: PMC1073725  PMID: 8530947

Abstract

A 25 year old woman, without family history of muscular dystrophy, had had an isolated lower limb hypertrophy since infancy and later experienced exercise-induced myalgia. Genomic DNA analysis showed a deletion of exons 45 to 52 of the dystrophin gene. Uncommon phenotypes of dystrophinopathies and consequences in genetic counselling in women are emphasised.

Full text

PDF
552

Images in this article

552Image
on p.552
553Image
on p.553

Selected References

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

  1. Arikawa E., Hoffman E. P., Kaido M., Nonaka I., Sugita H., Arahata K. The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology. 1991 Sep;41(9):1491–1496. doi: 10.1212/wnl.41.9.1491. [DOI] [PubMed] [Google Scholar]
  2. Comi G. P., Prelle A., Bresolin N., Moggio M., Bardoni A., Gallanti A., Vita G., Toscano A., Ferro M. T., Bordoni A. Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. Brain. 1994 Feb;117(Pt 1):1–14. doi: 10.1093/brain/117.1.1-a. [DOI] [PubMed] [Google Scholar]
  3. DUBOWITZ V. MYOPATHIC CHANGES IN A MUSCULAR DYSTROPHY CARRIER. J Neurol Neurosurg Psychiatry. 1963 Aug;26:322–325. doi: 10.1136/jnnp.26.4.322. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Doriguzzi C., Palmucci L., Mongini T., Chiadò-Piat L., Restagno G., Ferrone M. Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy. J Neurol. 1993 May;240(5):269–271. doi: 10.1007/BF00838159. [DOI] [PubMed] [Google Scholar]
  5. Ferrer X., Larrivière M., Coquet M., Ellie E., Lagueny A., Julien J. Syndrome des ceintures. Etude de 46 cas. Rev Neurol (Paris) 1993;149(12):788–793. [PubMed] [Google Scholar]
  6. Gospe S. M., Jr, Lazaro R. P., Lava N. S., Grootscholten P. M., Scott M. O., Fischbeck K. H. Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. Neurology. 1989 Oct;39(10):1277–1280. doi: 10.1212/wnl.39.10.1277. [DOI] [PubMed] [Google Scholar]
  7. Griggs R. C., Mendell J. R., Brooke M. H., Fenichel G. M., Miller J. P., Province M., Moxley R. T., 3rd, Huntzinger D., Vaughn A., Cohen M. Clinical investigation in Duchenne dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection. Muscle Nerve. 1985 Jan;8(1):60–67. doi: 10.1002/mus.880080111. [DOI] [PubMed] [Google Scholar]
  8. Hoffman E. P., Arahata K., Minetti C., Bonilla E., Rowland L. P. Dystrophinopathy in isolated cases of myopathy in females. Neurology. 1992 May;42(5):967–975. doi: 10.1212/wnl.42.5.967. [DOI] [PubMed] [Google Scholar]
  9. 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]
  10. Ioannou P., Christopoulos G., Panayides K., Kleanthous M., Middleton L. Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis. Neurology. 1992 Sep;42(9):1783–1790. doi: 10.1212/wnl.42.9.1783. [DOI] [PubMed] [Google Scholar]
  11. 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]
  12. LYON M. F. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961 Apr 22;190:372–373. doi: 10.1038/190372a0. [DOI] [PubMed] [Google Scholar]
  13. Merlini L. Calf myopathy with a twist. Neuromuscul Disord. 1994 Jan;4(1):13–15. doi: 10.1016/0960-8966(94)90043-4. [DOI] [PubMed] [Google Scholar]
  14. Minetti C., Chang H. W., Medori R., Prelle A., Moggio M., Johnsen S. D., Bonilla E. Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype. Neurology. 1991 Aug;41(8):1288–1292. doi: 10.1212/wnl.41.8.1288. [DOI] [PubMed] [Google Scholar]
  15. 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]
  16. 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]
  17. Moser H., Emery A. E. The manifesting carrier in Duchenne muscular dystrophy. Clin Genet. 1974;5(4):271–284. doi: 10.1111/j.1399-0004.1974.tb01694.x. [DOI] [PubMed] [Google Scholar]
  18. Norman A., Thomas N., Coakley J., Harper P. Distinction of Becker from limb-girdle muscular dystrophy by means of dystrophin cDNA probes. Lancet. 1989 Mar 4;1(8636):466–468. doi: 10.1016/s0140-6736(89)91367-6. [DOI] [PubMed] [Google Scholar]
  19. PEARSON C. M., FOWLER W. M., WRIGHT S. W. X-chromosome mosaicism in females with muscular dystrophy. Proc Natl Acad Sci U S A. 1963 Jul;50:24–31. doi: 10.1073/pnas.50.1.24. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Palmucci L., Doriguzzi C., Mongini T., Chiadò-Piat L., Restagno G., Carbonara A., Paolillo V. Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy. J Neurol Sci. 1992 Sep;111(2):218–221. doi: 10.1016/0022-510x(92)90073-t. [DOI] [PubMed] [Google Scholar]
  21. Roberds S. L., Leturcq F., Allamand V., Piccolo F., Jeanpierre M., Anderson R. D., Lim L. E., Lee J. C., Tomé F. M., Romero N. B. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell. 1994 Aug 26;78(4):625–633. doi: 10.1016/0092-8674(94)90527-4. [DOI] [PubMed] [Google Scholar]
  22. Sewry C. A., Sansome A., Clerk A., Sherratt T. G., Hasson N., Rodillo E., Heckmatt J. Z., Strong P. N., Dubowitz V. Manifesting carriers of Xp21 muscular dystrophy; lack of correlation between dystrophin expression and clinical weakness. Neuromuscul Disord. 1993 Mar;3(2):141–148. doi: 10.1016/0960-8966(93)90006-6. [DOI] [PubMed] [Google Scholar]
  23. Shukla A., Hall C. D., Bradley W. G., Pendlebury W. W. Congenital monomelic hypertrophy with progressive myopathy. Arch Neurol. 1991 Jan;48(1):107–110. doi: 10.1001/archneur.1991.00530130119030. [DOI] [PubMed] [Google Scholar]
  24. Sunohara N., Arahata K., Hoffman E. P., Yamada H., Nishimiya J., Arikawa E., Kaido M., Nonaka I., Sugita H. Quadriceps myopathy: forme fruste of Becker muscular dystrophy. Ann Neurol. 1990 Nov;28(5):634–639. doi: 10.1002/ana.410280506. [DOI] [PubMed] [Google Scholar]
  25. Tihy F., Vogt N., Recan D., Malfoy B., Leturcq F., Coquet M., Serville F., Fontan D., Guillard J. M., Kaplan J. C. Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter. Hum Genet. 1994 May;93(5):563–567. doi: 10.1007/BF00202824. [DOI] [PubMed] [Google Scholar]
  26. Yau S. C., Roberts R. G., Bobrow M., Mathew C. G. Direct diagnosis of carriers of point mutations in Duchenne muscular dystrophy. Lancet. 1993 Jan 30;341(8840):273–275. doi: 10.1016/0140-6736(93)92618-4. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES