Genetic counseling in duchenne muscular dystrophy
β Scribed by W. G. Bradley; MD J. Kelemen
- Publisher
- John Wiley and Sons
- Year
- 1979
- Tongue
- English
- Weight
- 343 KB
- Volume
- 2
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
We read with interest the report of Frydman et al. [1995] who described a child with DMD whose father had idiopathic hyperCKemia. We have been following another family in which both DMD and presumed idiopathic hyperCKemia are seen, in which for several years there was confusion in the genetic counse
## Abstract The activities of pyruvateβkinase (PK) and creatineβkinase (CK) were measured in 50 normal pregnant women in both serum and amniotic fluid. Serum PK activity was found to be significantly higher in pregnant than in nonpregnant women, while serum CK did not differ significantly between t
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We agree with Professor Emery that evidence is adding up suggesting heterogeneity of DMD at the molecular and cytogenetic levels Poyd and Buckle, 19861. However, this does not seem evident on clinical grounds. Our group of patients classified as mentally retarded [Bortolini and Zatz, 19861 all had