Phenotypes are quite variable, and manifestations can include weakness, abnormal gait, myotonia, cramps, and scoliosis.
22.
In myotonia congenita, the term reflects that the disease is genetically present from birth, while the onset may be delayed.
23.
Becker disease usually appears later in childhood than Thomsen disease, and causes more severe myotonia, muscle stiffness and transient weakness.
24.
This model is often used in scientific work with muscular dystrophy, and displays myotonia due to lack of functional chloride channels.
25.
Mutations in the gene are associated with hypokalemic periodic paralysis, hyperkalemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia.
26.
In people with congenital myotonia due to a mutation in CLCN1, the ion channel admits too few chloride ions into the cell.
27.
Affected individuals display a wide range of symptoms including myotonia, skeletal muscle weakness and wasting, cardiac conduction abnormalities, and cataracts.
28.
The goats do not truly " faint " in any sense of the word, as they never lose consciousness because of their myotonia.
29.
An increase in muscle tone ( myotonia ) of certain muscle groups, occurring voluntarily and involuntarily, begins during this phase among both sexes.
30.
Both patients had been seen by skeletal muscle chloride channel which is the underlying cause of myotonia congenita revealed that both patients had mutations in this gene.
