Female carriers of Duchenne muscular dystrophy (DMD) may demonstrate elevated serum creatine kinase (CK) and reduction of muscle dystrophin in all muscle types. We hypothesized that decreased dystrophin in uterine or pelvic girdle musculature might affect the obstetrical performance of females heter
Electrocardiographic studies in female carriers of duchenne muscular dystrophy
✍ Scribed by Elzbieta Łukasik
- Publisher
- Springer
- Year
- 1975
- Tongue
- English
- Weight
- 711 KB
- Volume
- 209
- Category
- Article
- ISSN
- 0340-5354
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✦ Synopsis
The incidence of electrocardiographic features "typical" for the Duchenne progressive muscular dystrophy (PMD) was investigated in 191 carriers: 136 mothers and 55 daughers. The typical PMD pattern was seen in 6.6% of the mothers, and a pattern similar to that observed in PMD in 2.9%. Among daughters of carriers the percentages were 16.4 and 1.8 respectively. The daughters obviously belong to a much lower age bracket (average 13.3 years) and therefore must be followed for the eventual disappearance of the "juvenile" ECG features, which, in this group, may reduce the incidence of the typical PMD electrocardiograms. The need for more thorough clinical appraisal of the myocardium in carriers is emphasized, especially in those with the "typical" PMD electrocardiograms, with the help of hemodynamic investigations.
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The family of a male with Duchenne muscular dystrophy (DMD) and a deletion within the dystrophin gene has been studied. Polymerase chain reaction analysis of ectopic mRNA from peripheral blood T+B lymphocytes and the use of (CA) n repeat polymorphisms in and around the deleted region showed the prob
AS.), and
A 4-year-old girl was identified with high creatine kinase (CK) values, and mild muscle weakness in a limb-girdle distribution. Results of dystrophin analysis of the muscle biopsy were consistent with a manifesting heterozygote for Duchenne muscular dystrophy. In peripheral lymphocytes she had a t(X