Detection of duchenne muscular dystrophy carriers: quantitative echography and creatine kinasemia
✍ Scribed by Georges Schapira; Pascal Laugier; Jacques Rochette; Geneviève Berger; Pierre Katz; Jean Perrin
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 487 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0340-6717
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Carbonic anhydrase III (CAIII) and creatine kinase (CK) were measured in plasma samples from a series of females at-risk as carriers of Duchenne muscular dystrophy and compared with control groups. Both plasma CAIII and CK levels were raised in a proportion of carriers. Although measurement of CAIII
The quantitative EMG technique was used to detect Duchenne muscular dystrophy carriers. The tests were carried out, measuring the parameters of M.U. potentials (the duration, the phase, and the 0 index according to Van den Bosch, modified by Gardner-Medwin), and using the Willison analyzer, in a gro
Dystrophin gene deletions account for up to 68% of all Duchenne (DMD) and Becker (BMD) muscular dystrophy mutations. In affected males, these deletions can be detected easily using multiplex PCR tests which monitor for exon presence. In addition, quantitative dosage screening can discriminate female