Abstract
The large majority of female carriers (heterozygotes) of Duchenne or Becker muscular dystrophies (DMD/BMD) show no overt clinical symptoms. Although most carriers have been reported to have heart abnormalities by imaging technologies (echocardiography), the majority of female carriers do not show overt cardiac dysfunction (1–3).
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References
Politano, L., Nigro, V., Nigro, G., Petretta, V. R., Passamano, L., Papparella, S., Di Somma, S., and Comi, L. I. (1996) Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 275, 1335–1338
Kinoshita, H., Goto, Y., Ishikawa, M., Uemura, T., Matsumoto, K., Hayashi, Y. K., Arahata, K., and Nonaka, I. (1995) A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom. Brain Dev. 17, 202–205.
Mirabella, M., Servidei, S., Manfredi, G., Ricci, E., Frustaci, A., Bertini, E., Rana, M., and Tonali, P. (1993) Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology 43, 2342–2345.
Hoffman et al. (1992)
Bushby, K. M., Goodship, J. A., Nicholson, L. V., Johnson, M. A., Haggerty, I. D., and Gardner-Medwin, D. (1993) Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy. Neuromusc. Disord. 3, 57–64.
Azofeifa, J., Voit, T., Hubner, C., Cremer, M. (1995) X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum. Genet. 96, 167–176.
Matthews, P. M., Benjamin, D., VanBakel, I., Squier, M.V., Nicholson, L. V., Sewry, C., et al. (1995) Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers. Neuromusc. Disord. 5 209–220.
Bonilla, E., Younger, D. S., Chang, H. W., Tantravahi, U., Miranda, A. F., Medori, R., et al. (1990) Partial dystrophin deficiency in monozygous twin carriers of the Duchenne gene discordant for clinical myopathy. Neurology 40, 1267–1270.
Sumita, D. R., Vainzof, M., Campiotto, S., Cerqueira, A. M., Canovas, M., Otto, P.A., Passos-Bueno, M.R., and Zatz, M. (1998) Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/ Becker female carriers. Am. J. Med. Genet. 80, 356–361.
Hoffman, E. P., Pegoraro, E., Scacheri, P., Burns, R. G., Taber, J. W., Weiss, L., Spiro, A., and Blattner, P. (1996) Genetic counseling of isolated carriers of Duchenne muscular dystrophy. Am. J. Med. Genet. 63, 573–580.
Pegoraro, E., Schimke, R. N., Garcia, C., Stern, H., Cadaldini, M., Angelini, C., et al. (1995) Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin competent myonuclei. Neurology 45, 677–690.
Pegoraro, E., Schimke, R. N., Arahata, K., Hayashi, Y., Stern, H., Marks, H., et al. (1994) Dystrophinopathy in females: paternal inheritance and genetic counseling. Am. J. Hum. Genet. 54, 989–1003.
Pegoraro, E., Whitaker, J., Mowery-Rushton, P., Surti, U., Lanasa, M., and Hoffman, E. P. (1997) Familial skewed X-inactivation: a molecular trait associated with high spontaneous abortion rate maps to Xq28. Am. J. Hum. Genet. 61, 160–170.
Hoffman, E. P., Brown, R. H., and Kunkel, L. M. (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51, 919–928.
Koenig, M., and Kunkel, L. M. (1990) Detailed analysis of the repeat domain of dystrophin reveals 4 potential hinge regions that may confer flexibility. J. Biol. Chem. 265, 4560–4566.
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© 2001 Humana Press Inc., Totowa, NJ
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Hoffman, E.P., Giron, J. (2001). Molecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular Dystrophy. In: Bushby, K.M., Anderson, L.V. (eds) Muscular Dystrophy. Methods in Molecular Medicine, vol 43. Springer, Totowa, NJ. https://doi.org/10.1385/1-59259-138-8:173
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DOI: https://doi.org/10.1385/1-59259-138-8:173
Publisher Name: Springer, Totowa, NJ
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