Konagaya M, Honda H, Sakai M, Iida M
Department of Neurology, Suzuka National Hospital, Japan.
Neurology. 1995 Jul;45(7):1409-10. doi: 10.1212/wnl.45.7.1409.
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.
