Membrane defects in paramyotonia congenita (eulenburg)
✍ Scribed by Dr. Frank Lehmann-Horn; Dr. Reinhardt Rüdel; Dr. Kenneth Ricker
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 708 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
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## Abstract The biophysical origins of paramyotonia congenita and its exacerbation in cold temperatures were examined. Human skeletal muscle voltage‐gated sodium channels were expressed in __Xenopus__ oocytes and macroscopic currents were recorded from cell‐attached patches. Wild‐type (hNa~V~1.4) c
A 47-year-old female with paramyotonia congenita was studied with electromyography and showed minimal myotonic discharges but prominent repetitive discharges in hand muscles at room temperature. With cooling the hand, the repetitive discharges ceased as the myotonic potentials became prominent. With