Neurology
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Neurology, Vol 45, Issue 7 1409-1410, Copyright © 1995 by American Academy of Neurology

ARTICLES

Transmission of dystrophinopathy by X-chromosome inversion

M Konagaya, H Honda, M Sakai and M Iida
Department of Neurology, Suzuka National Hospital, Japan.

A woman had a karyotype of 46Xinv(X)(p21.2;q26.1) and mosaicism of dystrophin-negative muscle fibers. The X-chromosome inversion was transmitted to her daughter, who had an elevated serum CK. The genetic transmission as well as the probable random inactivation of the abnormal X chromosome in this mildly affected patient distinguish this case from those of dystrophinopathy with X;autosome translocations.




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