Summary
Data obtained from simultaneous determinations of serum creatine-kinase levels and estimation of ultrasound attenuation values in muscles greatly improved the detection of obligate carriers of Duchenne muscular dystrophy than when only one of these methods was employed alone. Eleven carriers out of 19 had a high creatine-kinasemia level and nine carriers out of 19 had a high (abnormal) attenuation value. Because of the limited overlapping between the two parameters studied, we were able to recognize 17 obligate carriers out of the 19. This indicates that the parameters studied concern different features of the disease, and the practical and theoretical considerations are discussed. The techniques are discussed together with molecular genetic investigations.
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Schapira, G., Laugier, P., Rochette, J. et al. Detection of duchenne muscular dystrophy carriers: quantitative echography and creatine kinasemia. Hum Genet 75, 19–23 (1987). https://doi.org/10.1007/BF00273832
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DOI: https://doi.org/10.1007/BF00273832