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Dystrophinopathy in a young boy with Klinefelter's syndrome
- Source :
- Muscle & Nerve; June 1998, Vol. 21 Issue: 6 p792-795, 4p
- Publication Year :
- 1998
-
Abstract
- We report the first case of a child with mild dystrophinopathy associated with Klinefelter's syndrome (karyotype 47, XXY). This 3.5-year-old boy was affected by some symptoms suggestive of Becker's muscular dystrophy. Dystrophin immunostaining and immunoblotting procedures confirmed the diagnosis, but polymerase chain reaction-directed gene analysis failed to reveal any macrodeletion. Methylation-based assay did not show preferential X-inactivation. This confirmed the coexistence of the two active X-chromosomes (one of which was of paternal origin), thus accounting for the mild form of dystrophinopathy in this child affected by Klinefelter's syndrome. © 1998 John Wiley & Sons, Inc. Muscle Nerve 21:792795, 1998.
Details
- Language :
- English
- ISSN :
- 0148639X and 10974598
- Volume :
- 21
- Issue :
- 6
- Database :
- Supplemental Index
- Journal :
- Muscle & Nerve
- Publication Type :
- Periodical
- Accession number :
- ejs1832359
- Full Text :
- https://doi.org/10.1002/(SICI)1097-4598(199806)21:6<792::AID-MUS12>3.0.CO;2-V