Introduction: Duchenne and Becker muscular dystrophy are X-linked and affect mainly males. The authors report four female cases.
Exegesis: Four patients presented muscular deficiency predominant to lower limbs and chronic disease. Female distrophinopathy is understandable by three mechanisms: Turner's syndrome, translocation X-chromosome with an autosome and skewed X-chromosome inactivation.
Conclusion: Diagnosis of female Duchenne and Becker muscular dystrophy is really difficult if there is not male case in family.
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http://dx.doi.org/10.1016/j.revmed.2004.03.001 | DOI Listing |
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