Annual review of medicine.
Publisher:
Annual Reviews, inc.. Palo Alto Ca : Annual Reviews
Frequency: Annual
Country: United States
Language: English
Start Year:1950 -
Identifiers
| ISSN: | 0066-4219 (Print) 1545-326X (Electronic) 0066-4219 (Linking) |
| NLM ID: | 341068 |
| (DNLM): | A54135000(s) |
| (OCoLC): | 01481504 |
| Coden: | ARMCAH |
| LCCN: | sn 84000768 |
| Classification: | W1 AN773 |
Voltage-gated ion channelopathies: inherited disorders caused by abnormal sodium, chloride, and calcium regulation in skeletal muscle. The pathological genetic defects in the inherited myotonias and periodic paralyses were recently elucidated using molecular genetic studies. These disorders are usually transmitted as a dominant trait from an affected parent to a child. The many clinical symptoms include cold-induced uncontrollable contraction of muscle, potassium-induced contraction and paralysis, myotonia with dramatic muscular hypertrophy, muscle stiffness, and insulin-induced paralysis (in males). Horses afflicted with the disorder can suddenly collapse, despite an impressive physique. In the past three years, these clinic...