TRANSMISSION OF DYSTROPHINOPATHY BY X-CHROMOSOME INVERSION

Authors
KONAGAYA M HONDA H SAKAI M IIDA M
Citation
M. Konagaya et al., TRANSMISSION OF DYSTROPHINOPATHY BY X-CHROMOSOME INVERSION, Neurology, 45(7), 1995, pp. 1409-1410
Citations number
6
Categorie Soggetti
Clinical Neurology
Journal title
Neurology → ACNP
ISSN journal
00283878
Volume
45
Issue
7
Year of publication
1995
Pages
1409 - 1410
Database
ISI
SICI code
0028-3878(1995)45:7<1409:TODBXI>2.0.ZU;2-R
Abstract
A woman had a karyotype of 46Xinv(X)(p21.2;q26.1) and mosaicism of dys trophin-negative muscle fibers. The X-chromosome inversion was transmi tted to her daughter, who had an elevated serum CK. The genetic transm ission as well as the probable random inactivation of the abnormal X c hromosome in this mildly affected patient distinguish this case from t hose of dystrophinopathy with X;autosome translocations.